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In Vivo Role of JAK2 in the Pathogenesis of Obesity and the Metabolic Syndrome By Sally Yu Shi A thesis submitted in conformity with the requirements for the degree of Doctor of Philosophy Institute of Medical Science University of Toronto © Copyright by Sally Yu Shi 2015

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Page 1: In Vivo Role of JAK2 in the Pathogenesis of Obesity and ... · lacking JAK2 in their adipocytes were cold sensitive, and were susceptible to high fat diet (HFD)-induced obesity, insulin

In Vivo Role of JAK2 in the Pathogenesis of Obesity and

the Metabolic Syndrome

By

Sally Yu Shi

A thesis submitted in conformity with the requirements

for the degree of Doctor of Philosophy

Institute of Medical Science

University of Toronto

© Copyright by Sally Yu Shi 2015

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In Vivo Role of JAK2 in the Pathogenesis of Obesity and the

Metabolic Syndrome

Sally Yu Shi

Doctor of Philosophy

Institute of Medical Science

University of Toronto

2015

Abstract

Obesity and the metabolic syndrome represent a serious global public health issue due to

their long-term complications including type 2 diabetes, non-alcoholic fatty liver disease,

cardiovascular disease and some cancers. As a systemic metabolic disorder, obesity affects

many organ systems and has a complex etiology. Mechanisms linking obesity to its

complications are poorly understood. The Janus kinase-signal transducers and activators

of transcription (JAK-STAT) pathway mediates the signal transduction of numerous

cytokines, growth factors and hormones that regulate energy homeostasis and metabolism

and may be important in the development of obesity and the metabolic syndrome. In this

work, we developed transgenic mouse models to investigate the in vivo metabolic role of

JAK2, an essential player in the JAK-STAT pathway, in the liver and adipose tissue under

both physiological and pathophysiological conditions. Specifically, in Chapter IV, we

deleted JAK2 in the adipose tissue and found that JAK2 deficiency resulted in increased

body weight gain and adiposity due to impaired lipolysis in visceral fat, leading to insulin

resistance and impaired glucose tolerance with aging. In Chapter V, we further explored

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the role of JAK2 in brown adipose tissue and show that JAK2 is required for cold- and

diet-induced uncoupling protein 1 (UCP1) expression and thermogenesis. As such, mice

lacking JAK2 in their adipocytes were cold sensitive, and were susceptible to high fat diet

(HFD)-induced obesity, insulin resistance and glucose intolerance. In Chapter VI, we

report that hepatocyte-specific deletion of JAK2 led to the development of spontaneous

lipid accumulation in the liver. Surprisingly, despite the profound hepatosteatosis, deletion

of JAK2 did not sensitize the liver to accelerated inflammatory injury on a HFD. This was

accompanied by complete protection against HFD-induced systemic insulin resistance and

glucose intolerance. Taken together, the results presented in this thesis reveal novel roles

of the JAK-STAT pathway in metabolism and may facilitate development of preventative

and therapeutic strategies for obesity and associated disorders.

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Acknowledgments

First and foremost, I would like to take this opportunity to say a big thank you to my

supervisor Dr. Minna Woo for all her advice, guidance and support throughout my studies.

Thank you for taking on a student with no previous research experience, and for always

having confidence in my abilities. Your guidance and encouragement has allowed me to

grow both professionally and personally. Your dedication and passion for research will

always be an inspiration. Thank you for everything!!

I would also like to thank members of my program advisory committee, Drs. Dwayne

Barber and Adria Giacca, for their tremendous help, insightful advice and constructive

criticism over the last five years. Thank you for all your time and patience!

This thesis project would not have been possible without the help of all our collaborators,

Drs. Adria Giacca, Daniel A. Winer, Robin E. Duncan, Khosrow Adeli, Richard P. Bazinet

and Kay-Uwe Wagner. I would also like to acknowledge the funding support from the

CIHR and CDA. My graduate work was supported by NSERC, CIHR, CDA, CLF, OGS

and BBDC. I would also like to acknowledge Rubén García Martin, who set the foundation

for the work presented in Chapter VI of this thesis. I am very grateful for his input.

To all past and present members of the Woo lab, Stephanie, Erica, Cynthia, Tara, Jara,

Shun-Yan, Wei, Diana and Lin, my great colleagues and true friends. Thank you for all the

support, encouragement and advice. You have made these years in the lab much more

memorable and exciting. Your friendship will be cherished forever.

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To Grace, Sophia and Linda, thank you for your company throughout these years. I will

always remember all the laughter, tears and the wonderful moments we had together.

I would like to dedicate this thesis to my parents, who made a tremendous amount of

sacrifices to make sure I can have the best opportunities in life. I thank them for their

unconditional and unwavering love, support and encouragement throughout my life. I am

forever grateful for everything they have done for me.

Last but not least, to my husband and best friend Shicong. Meeting you was the best thing

that happened in my PhD years. Thank you for supporting all my decisions and for always

believing in me. You are the motivation behind all my work.

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Publications arising from this thesis work

1. Shi SY, Zhang W, Sivasubramaniyam T, Brunt JJ, Schroer SA, Wagner KU, and

Woo M. Janus kinase 2 (JAK2) promotes brown adipose function and is required for

diet- and cold-induced thermogenesis in mice. Under peer review in Diabetologia.

2. Shi SY, Luk CT, Brunt JJ, Sivasubramaniyam T, Lu SY, Schroer SA, and Woo M.

(2014) Adipocyte-specific deficiency of Janus kinase (JAK) 2 in mice impairs

lipolysis and increases body weight, and leads to insulin resistance with ageing.

Diabetologia. 57(5):1016-26.

3. Shi SY*, Martin RG*, Duncan RE, Choi D, Lu SY, Schroer SA, Cai EP, Luk CT,

Hopperton KE, Domenichiello AF, Tang C, Naples M, Dekker MJ, Giacca A, Adeli

K, Wagner KU, Bazinet RP, and Woo M. (2012) JAK2 deletion in liver leads to

profound steatosis without progression to steatohepatitis and protects against glucose

intolerance. J. Biol. Chem. 287(13):10277-88.

*Authors with equal contributions

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Other publications

1. Shi SY, Lu SY, Sivasubramaniyam T, Cai EP, Luk CT, Schroer SA, Kim RH, Mak

TW and Woo M. DJ-1 links muscle ROS production with metabolic reprogramming

and systemic energy homeostasis in mice. Accepted at Nat. Commun.

2. Revelo XS, Ghazarian M, Chng MHY, Shi SY, Luck H, Tsai S, Lei H, Kenkel J, Liu

CL, Tangsombatvisit S, Tsui H, Sima C, Lewis GF, Shen L, Woo M, Utz PJ, Glogauer

M, Engleman E, Winer S, and Winer DA. Nucleic acid targeting pathways promote

inflammation in obesity related insulin resistance. Under peer review in Nat.

Commun.

3. Luck H, Tsai S, Chung J, Clemente-Casares X, Ghazarian M, Revelo XS, Lei H, Luk

CT, Shi SY, Surendra A, Copeland JK, Ahn J, Prescott D, Rasmussen BA, Chng

MHY, Engleman EG, Girardin SE, Lam TKT, Croitoru K, Dunn S, Philpott DJ,

Guttman DS, Woo M, Winer S, and Winer DA. (2015) Regulation of obesity-related

insulin resistance with gut anti-inflammatory agents. Cell. Metab. 21(4):527-42.

4. Wang L, Luk CT, Cai EP, Schroer SA, Allister EM, Shi SY, Wheeler MB, Gaisano

HY, and Woo M. (2015) PTEN deletion in pancreatic α cells protects against high

fat diet-induced hyperglucagonemia and insulin resistance. Diabetes. 64(1):147-57.

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viii

5. Revelo XS, Tsai S, Lei H, Luck H, Ghazarian M, Tsui H, Shi SY, Schroer S, Luk C,

Lin GHY, Mak TW, Woo M, Winer S, and Winer D. (2015) Perforin is a novel

immune regulator of obesity related insulin resistance. Diabetes. 64(1):90-103.

6. Cai EP, Luk CT, Wu X, Schroer SA, Shi SY, Sivasubramaniyam T, Brunt JJ,

Zacksenhaus E, and Woo M. (2014) Rb and p107 are required for alpha cell survival,

beta cell cycle control and glucagon-like peptide-1 action. Diabetologia.

57(12):2555-65.

7. Brunt JJ, Shi SY, Schroer SA, Sivasubramaniyam T, Cai EP, and Woo M. (2014)

Overexpression of HIF-2α in pancreatic beta cells does not alter glucose homeostasis.

Islets. 6(5-6):e1006075.

8. Luk CT, Shi SY, Choi D, Cai EP, Schroer SA, and Woo M. (2013) In vivo

knockdown of adipocyte erythropoietin receptor does not alter glucose or energy

homeostasis. Endocrinology. 154(10):3652-9.

9. Cai EP, Casimir M, Schroer SA, Luk CT, Shi SY, Choi D, Dai XQ, Hajmrle C,

Spigelman AF, Zhu D, Gaisano HY, MacDonald PE, and Woo M. (2012) In vivo role

of focal adhesion kinase in regulating pancreatic β-cell mass and function through

insulin signalling, actin dynamics and granule trafficking. Diabetes. 61(7):1708-18.

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Table of Contents

ACKNOWLEDGMENTS ................................................................................................................... IV

PUBLICATIONS ARISING FROM THIS THESIS WORK .................................................................... VI

OTHER PUBLICATIONS ................................................................................................................. VII

LIST OF TABLES ........................................................................................................................... XII

LIST OF FIGURES ........................................................................................................................ XIII

LIST OF ABBREVIATIONS ............................................................................................................. XV

CHAPTER I : INTRODUCTION ......................................................................................................... 1

I. 1. Obesity, Insulin Resistance, and the Metabolic Syndrome ......................................................... 2

I.1.1 Obesity and insulin resistance ...................................................................................................... 2

I.1.1.1 Obesity .................................................................................................................................. 2

I.1.1.2 The metabolic syndrome ....................................................................................................... 3

I.1.1.3 Insulin resistance ................................................................................................................... 4

I.1.2 White adipose tissue ..................................................................................................................... 6

I.1.2.1 Obesity and adipose tissue expansion ................................................................................... 6

I.1.2.2 Adipogenesis ......................................................................................................................... 8

I.1.2.3 Role of white adipose tissue in lipid metabolism .................................................................10

I.1.2.4 Adipokines ...........................................................................................................................11

I.1.2.4.1 Leptin ............................................................................................................................12

I.1.2.4.2 Adiponectin ...................................................................................................................13

I.1.2.4.3 Tumour necrosis factor alpha (TNF-α) .........................................................................15

I.1.2.4.4 Interleukin 6 (IL-6) ........................................................................................................15

I.1.2.4.5 Resistin ..........................................................................................................................16

I.1.2.4.6 Monocyte chemoattractant protein 1 (MCP-1) .............................................................17

I.1.3 Brown adipose tissue (BAT) .......................................................................................................18

I.1.3.1 BAT and non-shivering thermogenesis ................................................................................19

I.1.3.2 BAT and metabolic control ..................................................................................................21

I.1.4 Pathogenesis of obesity-induced insulin resistance and metabolic dysfunction .........................23

I.1.4.1 Initiating events ....................................................................................................................24

I.1.4.2 Alteration in immune cells ...................................................................................................28

I.1.4.3 Disrupted adipokine secretion ..............................................................................................29

I.1.4.4 Elevated FFA levels and lipotoxicity ...................................................................................30

I.1.4.5 Oxidative stress ....................................................................................................................32

I.1.4.6 Molecular mechanisms of insulin resistance ........................................................................33

I.1.4.6.1 JNK and IKKβ/NF-κB signalling ..................................................................................33

I.1.4.6.2 Protein kinase C (PKC) activation ................................................................................34

I.1.4.6.3 Induction of SOCS proteins ...........................................................................................35

I. 2. Non-Alcoholic Fatty Liver Disease (NAFLD) .............................................................................36

I.2.1 NAFLD .......................................................................................................................................36

I.2.2 Disease spectrum of NAFLD ......................................................................................................37

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I.2.3 Role of the liver in metabolism ...................................................................................................38

I.2.3.1 Role of the liver in glucose metabolism ...............................................................................38

I.2.3.2 Role of the liver in lipid metabolism....................................................................................39

I.2.4 Pathogenesis of NAFLD .............................................................................................................40

I.2.4.1 Development of steatosis .....................................................................................................40

I.2.4.2 Progression to NASH ...........................................................................................................42

I. 3. Janus Kinase 2 (JAK2) .................................................................................................................47

I.3.1 JAK-STAT signalling .................................................................................................................47

I.3.2 JAK protein structure and regulatory mechanisms .....................................................................49

I.3.3 Crosstalk of JAK-STAT with other signalling pathways ............................................................52

I.3.4 In vivo function of JAK2 .............................................................................................................53

I.3.5 Role of JAK-STAT pathway in adipose physiology ...................................................................55

I.3.5.1 Role of JAK-STAT pathway in WAT .................................................................................55

I.3.5.2 Role of JAK-STAT pathway in BAT...................................................................................57

I.3.6 Role of JAK2-STAT signalling in the liver ................................................................................59

I.3.6.1 Role of JAK2-STAT signalling in hepatic lipid homeostasis ..............................................59

I.3.6.2 Role of JAK2-STAT signalling in hepatic inflammation and NAFLD progression ............61

CHAPTER II : THESIS OBJECTIVES AND HYPOTHESES .............................................................. 63

CHAPTER III : MATERIALS AND METHODS................................................................................ 68

III. 1 Mouse protocol ............................................................................................................................69

III. 2 DNA extraction ............................................................................................................................70

III. 3 Polymerase chain reaction (PCR) genotyping ..........................................................................71

III. 4 In vivo metabolic studies .............................................................................................................72

III. 5. Body temperature and cold exposure .......................................................................................73

III. 6 Body composition by nuclear magnetic resonance spectroscopy (Chapter IV) ......................73

III. 7 Ex vivo lipolysis (Chapter IV)......................................................................................................74

III. 8 Hyperinsulinemic-euglycemic clamp (Chapter VI) ...................................................................75

III. 9 Analyses of serum parameters ...................................................................................................76

III. 10 Hepatic lipid content and FA composition (Chapter VI) ........................................................76

III. 11 Histology, immunohistochemistry and immunofluorescence ................................................78

III. 12 RNA isolation and quantitative reverse transcription (RT)-PCR ........................................79

III. 13 Immunoblotting .........................................................................................................................81

III. 14 Statistical analysis .....................................................................................................................82

CHAPTER IV : ROLE OF ADIPOSE JAK2 IN WHITE ADIPOSE TISSUE BIOLOGY AND LIPID

METABOLISM ................................................................................................................................ 83

IV. 1 Introduction .................................................................................................................................84

IV. 2 Mouse Model and Experimental Design ....................................................................................86

IV. 3 Results ..........................................................................................................................................88

IV. 3-1 Disruption of adipocyte JAK2 increases body weight ........................................................88

IV. 3-2 Disruption of adipocyte JAK2 leads to increased adiposity ...............................................92

IV. 3-3 A-JAK2 KO mice have normal energy metabolism at 1 month of age, but display reduced

energy expenditure as they age .......................................................................................................94

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IV. 3-4 Adipose JAK2 deficiency leads to impaired lipolysis ........................................................96

IV. 3-5 A-JAK2 KO mice have disrupted adipokine secretion .......................................................99

IV. 3-6 A-JAK2 KO mice show impaired insulin sensitivity as they age .....................................101

IV. 4 Summary ....................................................................................................................................107

CHAPTER V : ROLE OF ADIPOSE JAK2 IN BAT FUNCTION AND THERMOGENESIS ............... 108

V. 1 Introduction .................................................................................................................................109

V. 2 Mouse Model and Experimental Design ...................................................................................111

V. 3 Results ..........................................................................................................................................113

V. 3-1 Adipocyte JAK2 expression and diet-induced thermogenesis ...........................................114

V. 3-2 JAK2 is required for diet-induced UCP1 expression and thermogenesis in BAT..............116

V. 3-3 Increased weight gain in HFD-fed A-JAK2 KO mice .......................................................121

V. 3-4 A-JAK2 KO mice develop HFD-induced insulin resistance and glucose intolerance .......121

V. 3-5 JAK2 is required for cold-induced UCP1 expression and thermogenesis in BAT .............123

V. 4 Summary .....................................................................................................................................125

CHAPTER VI : ROLE OF HEPATIC JAK2 IN METABOLISM AND INFLAMMATION ................... 127

VI. 1 Introduction ...............................................................................................................................128

VI. 2 Mouse Model and Experimental Design ..................................................................................130

VI. 3 Results ........................................................................................................................................134

VI. 3-1 L-JAK2 KO mice develop progressive hepatic steatosis ..................................................134

VI. 3-2 L-JAK2 KO mice do not progress to steatohepatitis on a high fat diet (HFD) .................138

VI. 3-3 L-JAK2 KO mice display impaired hepatic insulin signalling but normal systemic insulin

sensitivity ......................................................................................................................................139

VI. 3-4 L-JAK2 KO mice are protected from diet-induced glucose intolerance ...........................141

VI. 3-5 L-JAK2 KO mice exhibit impaired hepatic GH signalling ...............................................143

VI. 3-6 L-JAK2 KO mice display a reduction in adiposity and an increase in energy expenditure

.......................................................................................................................................................146

VI. 4 Summary ....................................................................................................................................148

CHAPTER VII : DISCUSSION AND FUTURE PERSPECTIVES ...................................................... 152

VII. 1 The role of adipocyte JAK2 in white adipocyte biology and lipid metabolism...................153

VII. 2 The role of adipocyte JAK2 in BAT function and thermogenesis .......................................155

VII. 3 The role of adipocyte JAK2 in whole-body metabolic regulation ........................................159

VII. 4 The role of hepatocyte JAK2 in hepatic lipid metabolism ...................................................160

VII. 5 The role of hepatocyte JAK2 in whole-body metabolic regulation and glucose homeostasis

..............................................................................................................................................................162

VII. 6 Concluding remarks and future direction .............................................................................165

CHAPTER VIII : REFERENCES ................................................................................................... 167

CHAPTER IX : PERMISSIONS ..................................................................................................... 194

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List of Tables

Table 1: Primer sequences for quantitative RT-PCR ................................................................... 80

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List of Figures

Chapter I: Introduction

Figure I-1 Mechanism of obesity-induced adipose expansion and inflammation. ........................ 25

Figure I-2 Proposed mechanism of NAFLD pathogenesis. ........................................................... 43

Figure I-3 Canonical JAK-STAT signalling pathway. .................................................................. 48

Figure I-4 Domain structure of JAK kinases. ................................................................................ 50

Chapter IV: Role of adipose JAK2 in white adipose tissue biology and lipid

metabolism

Figure IV-1 Efficient and specific deletion of JAK2 in adipose tissue. ........................................ 90

Figure IV-2 Increased body weight in A-JAK2 KO mice. ............................................................ 91

Figure IV-3 Increased adiposity in A-JAK2 KO mice. ................................................................. 93

Figure IV-4 No change in energy balance in A-JAK2 KO mice at 1 month of age. ..................... 95

Figure IV-5 Reduced energy expenditure in A-JAK2 KO mice at 5 to 6 months of age. ............. 97

Figure IV-6 Dysregulated expression of lipid metabolism genes in white adipose tissue from A-

JAK2 KO mice. ............................................................................................................................. 98

Figure IV-7 Impaired lipolysis and disrupted lipid homeostasis in A-JAK2 KO mice. .............. 100

Figure IV-8 Disrupted adipokine profile in A-JAK2 KO mice. .................................................. 102

Figure IV-9 Normal glucose homeostasis in A-JAK2 KO mice at 2 months of age. ................. 103

Figure IV-10 Impaired glucose tolerance in A-JAK2 KO mice at 5 to 6 months of age. ........... 105

Figure IV-11 Whole-body insulin resistance in A-JAK2 KO mice at 5 to 6 months of age. ...... 106

Chapter V: Role of adipose JAK2 in BAT function and thermogenesis

Figure V-1 Adipocyte JAK2 expression and diet-induced thermogenesis. ................................. 115

Figure V-2 JAK2 is required for diet-induced UCP1 expression and energy expenditure in BAT.

..................................................................................................................................................... 117

Figure V-3 Impaired BAT function in A-JAK2 KO mice. .......................................................... 119

Figure V-4 Reduced STAT3 and 5 phosphorylation in BAT from A-JAK2 KO mice. .............. 120

Figure V-5 Development of diet-induced obesity in A-JAK2 KO mice. .................................... 122

Figure V-6 HFD-induced insulin resistance and glucose intolerance in A-JAK2 KO mice. ...... 124

Figure V-7 Increased sensitivity to cold exposure in HFD-fed A-JAK2 KO mice. .................... 126

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Chapter VI: Role of hepatic JAK2 in metabolism and inflammation

Figure VI-1 Attenuated JAK2 expression in the liver of L-JAK2 KO mice. .............................. 131

Figure VI-2 Progressive hepatic steatosis in L-JAK2 KO mice. ................................................. 136

Figure VI-3 Hepatic expression of genes involved in lipid metabolism. .................................... 137

Figure VI-4 No progression to steatohepatitis on a HFD in L-JAK2 KO mice. ......................... 140

Figure VI-5 Attenuated hepatic insulin sensitivity but normal systemic insulin sensitivity in L-

JAK2 KO mice. ........................................................................................................................... 142

Figure VI-6 L-JAK2 KO mice are protected from glucose intolerance. ..................................... 144

Figure VI-7 L-JAK2 KO mice exhibit impaired hepatic GH signaling. ..................................... 145

Figure VI-8 L-JAK2 KO mice display a reduction in adiposity. ................................................ 147

Figure VI-9 L-JAK2 KO mice display an increase in energy expenditure. ................................ 149

Figure VI-10 Proposed model of the mechanism for the observed phenotype in L-JAK2 KO mice.

..................................................................................................................................................... 151

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List of Abbreviations

Akt/PKB v-akt murine thymoma viral oncogene homolog/protein kinase B

ALT Alanine aminotransferase

AMPK AMP-activated protein kinase

AP2 Adipocyte protein 2

AST Aspartate aminotransferase

ATGL Adipose triglyceride lipase

BAT Brown adipose tissue

BMI Body mass index

BSA Bovine serum albumin

cAMP Cyclic adenosine monophosphate

C/EBP CCAAT/enhancer-binding protein

CAP1 adenylyl cyclase-associated protein 1

CCR2 CC motif chemokine receptor 2

CNTF Ciliary neurotrophic factor

DAG Diacylglycerol

DEPC Diethylpyrocarbonate

DGAT Diacylglycerol acyltransferase

DNA Deoxyribonucleic acid

EDTA Ethylenediaminetetraacetic acid

ER Endoplasmic reticulum

FERM Band-4.1, ezrin, radixin, moesin

FFA Free fatty acid

GAPDH Glyceraldehyde 3-phosphate dehydrogenase

GH Growth hormone

GHR Growth hormone receptor

GLUT4 Glucose transporter 4

GSIS Glucose-stimulated insulin secretion

GTT Glucose tolerance test

H and E Hematoxylin and eosin

HDL High density lipoprotein

HEPES 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid

HFD High fat diet

HPLC High-performance liquid chromatography

HSL Hormone sensitive lipase

IFNγ Interferon gamma

IGF-1 Insulin-like growth factor 1

IKK IκB kinase

IL-6 Interleukin-6

IRS Insulin receptor substrate

ITT Insulin tolerance test

JAK Janus kinase

JNK c-Jun N-terminal kinase

LDL Low density lipoprotein

LIF Leukemia inhibitory factor

LPS Lipopolysaccharide

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MAPK Mitogen-activated protein kinase

MCP1/CCL2 Monocyte chemoattractant protein 1/chemokine (C-C motif) ligand 2

M-MLV Maloney murine leukemia virus

mRNA Messenger ribonucleic acid

mTOR Mammalian target of rapamycin

NAFLD Non-alcoholic fatty liver disease

NASH Non-alcoholic steatohepatitis

OSM Oncostatin M

PAGE polyacrylamide gel electrophoresis

PAI-1 plasminogen activator inhibitor-1

PBS Phosphate buffered saline

PCR Polymerase chain reaction

PEPCK Phosphoenolpyruvate carboxykinase

PGC-1α Peroxisome proliferator-activated receptor γ coactivator 1-alpha

PI3K Phosphoinositide 3 kinase

PKA Protein kinase A

PKC Protein kinase C

PMSF Phenylmethanesulfonylfluoride

PPAR Peroxisome proliferator-activated receptor

RBP4 Retinol binding protein 4

RER Respiratory exchange ratio

ROS Reactive oxygen species

RT-PCR Reverse transcription polymerase chain reaction

SAT Subcutaneous adipose tissue

SCD1 Steaoryl CoA desaturase

SDS sodium dodecylsulfate

SDS Sodium dodecyl sulfate

SEM Standard error of the mean

SH2 Src homology 2

SOCS Suppressor of cytokine signalling

STAT Signal transducer and activator of transcription

TBST Tris-buffered saline with Tween 20

TGFβ Transforming growth factor beta

TLR Toll-like receptor

TNFR TNF receptor

TNF-α Tumour necrosis factor alpha

Tris Tris(hydroxymethyl)aminomethane

UCP Uncoupling protein

VAT Visceral adipose tissue

VCO2 Volume of carbon dioxide production

VLDL Very low density lipoprotein

VO2 Volume of oxygen consumption

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Chapter I: Introduction

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I. 1. Obesity, Insulin Resistance, and the Metabolic Syndrome

I.1.1 Obesity and insulin resistance

I.1.1.1 Obesity

Obesity is characterized by excessive accumulation of body fat in the adipose tissue, to the

extent that health may be impaired (WHO, 2000). In clinical and epidemiological settings,

overweight is defined as a body mass index (BMI) equal to or greater than 25 kg/m2, where

BMI is calculated as body weight divided by height squared. Obesity is defined as a BMI

equal to or greater than 30 kg/m2 (WHO, 2000).

Obesity is a fast expanding global epidemic. The World Health Organization estimated

that by 2008, as many as 1.46 billion adults globally were classified as overweight and

more than 500 million adults were obese (Finucane et al., 2011). Between 1980 and 2013,

the proportion of overweight adults worldwide increased from 28.8% to 36.9% in men, and

from 29.8% to 38.0% in women (Ng et al., 2014). Furthermore, within this timeframe,

global prevalence of obesity rose by 47.1% in children (Ng et al., 2014). Overall, an

estimated 170 million children worldwide were overweight or obese (Lobstein et al., 2004),

and this number is still increasing at an alarming rate (Ng et al., 2014).

The obesity epidemic is imposing an unprecedented health, economic and social burden

on the modern society due to its serious health consequences. A large body of evidence has

linked a high BMI to increased risk of type 2 diabetes, cardiovascular disease, non-

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alcoholic fatty liver disease (NAFLD), osteoarthritis, cancer and other co-morbidities

(Berrington de Gonzalez et al., 2010; Flegal et al., 2007; Zheng et al., 2011), and obesity

increases the risk of all-cause mortality (Flegal et al., 2013). In 2010, overweight and

obesity together were estimated to account for 3.4 million deaths worldwide and 3.8% of

global disability-adjusted life-years (Lim et al., 2012).

I.1.1.2 The metabolic syndrome

The metabolic syndrome, also known as syndrome X or the insulin resistance syndrome,

is a common metabolic disorder closely associated with obesity (Alberti et al., 2005). It is

characterized by a constellation of metabolic abnormalities including central obesity,

glucose intolerance, insulin resistance, dyslipidemia and hypertension that together

increase the risk of cardiovascular disease (Alberti et al., 2005). By the current definition,

it is estimated to affect 20-25% of the world population (Eckel et al., 2005), and this

prevalence is expected to increase given the global obesity epidemic.

Individuals with the metabolic syndrome are at twice the risk of developing cardiovascular

disease (Isomaa et al., 2001; Lakka et al., 2002) and a five-fold increased risk of

developing type 2 diabetes (Hanson et al., 2002). This is not surprising, given that the

metabolic disorders that define the insulin resistance syndrome are established risk factors

for diabetes and cardiovascular disease (Despres and Lemieux, 2006). Obesity, especially

visceral obesity, is thought to be the common initiating event predisposing to development

of all the metabolic abnormalities (Despres and Lemieux, 2006). Accordingly, better

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understanding of the regulation of energy balance and how obesity predisposes to its

complications is urgently needed for the development of effective measures to reverse the

obesity epidemic.

I.1.1.3 Insulin resistance

Insulin resistance, characterized by reduced responsiveness to the action of insulin at its

target tissues, is frequently associated with obesity and plays a central role in the

development of the metabolic syndrome (Eckel et al., 2005). Insulin, secreted from

pancreatic β cells following nutrient consumption, promotes glucose uptake in skeletal

muscle and adipose tissue via glucose transporter 4 (GLUT4) and inhibits glucose

production in the liver, serving as a critical regulator of blood glucose levels (Saltiel and

Kahn, 2001). When energy supply exceeds demand, insulin promotes the storage of

nutrients by stimulating synthesis of glycogen, protein and lipids in the liver, skeletal

muscle and adipose tissue, and inhibiting gluconeogenesis, glycogenolysis, protein

breakdown and lipolysis (Saltiel and Kahn, 2001). In addition, insulin promotes the

conversion of carbohydrate and protein to lipids, which serve as a more efficient way to

store calories (Plutzky, 2009).

Action of insulin is mediated via the insulin receptor, a tyrosine kinase that undergoes

autophosphorylation upon activation (Patti and Kahn, 1998). Activated insulin receptor

recruits and phosphorylates adaptors molecules such as the insulin receptor substrate (IRS)

family of proteins, which interact with various signalling partners through their Src

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homology 2 (SH2) domains, resulting in the activation of diverse signalling pathways

(White, 1998). Among them, the phosphoinositide 3 kinase (PI3K) - v-akt murine

thymoma viral oncogene homolog (Akt; also known as protein kinase B (PKB)) pathway

plays a major role in mediating the metabolic action of insulin (Shepherd et al., 1995). The

mammalian target of rapamycin (mTOR) and downstream signalling molecules regulate

protein synthesis (Thomas and Hall, 1997), and both the PI3K-Akt and the Ras/mitogen-

activated protein kinase (MAPK) pathways are important for the growth and mitogenic

effects of insulin (Boulton et al., 1991). These signalling cascades act in a coordinated

manner to regulate enzyme activities, vesicle trafficking, protein synthesis and gene

expression which together regulate metabolism and other cellular functions (Saltiel and

Kahn, 2001).

At the molecular level, insulin resistance is characterized by reductions in the concentration

and kinase activity of the insulin receptor, the phosphorylation status of IRS proteins, PI3K

activity, and intracellular enzyme activities (Pessin and Saltiel, 2000). Of note, both the

insulin receptor and IRS proteins can be phosphorylated at specific serine sites, which

attenuate signal transduction by inhibiting tyrosine phosphorylation (Paz et al., 1997). In

addition, protein tyrosine phosphatases can negatively regulate insulin signalling by

catalyzing the rapid dephosphorylation of the insulin receptor and IRS proteins (Elchebly

et al., 1999). Furthermore, the suppressor of cytokine signalling (SOCS) family of proteins,

initially discovered as negative regulators of cytokine signalling, has also been implicated

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in the modulation of insulin signal transduction (Howard and Flier, 2006), which will be

discussed in more detail in Section I.1.4.6.

Together, diminished response to insulin results in the reduced uptake of circulating

glucose by insulin-responsive tissues and increased hepatic glucose production, leading to

elevated blood glucose levels (Pessin and Saltiel, 2000). At early stages of disease,

pancreatic β cells will compensate by augmenting their secretion of insulin, resulting in

hyperinsulinemia (Kahn, 2003). However, progressive β cell dysfunction occurs during

this stage, and eventually insulin secretion can no longer compensate for the defects in

peripheral insulin action, culminating in overt hyperglycemia and diabetes (Kahn, 2003).

Both obesity and lipodystrophy (selective loss of body fat) lead to the development of

insulin resistance (Shimomura et al., 1998; Sims et al., 1973; Sovik et al., 1996),

suggesting that adipose tissue is involved in metabolic regulation. Indeed, adipose tissue

dysfunction is proposed to play a cardinal role in the development of obesity-associated

insulin resistance and other metabolic complications.

I.1.2 White adipose tissue

I.1.2.1 Obesity and adipose tissue expansion

The drastic increase in obesity prevalence over the last few decades is largely attributed to

a shift towards energy-dense diets, resulting in an upsurge in total caloric intake (Gross et

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al., 2004; Wing, 1995), and a sedentary lifestyle accompanied by a general decline in

physical activity (Hu et al., 2003). Together this leads to energy imbalance where intake

of calories exceeds energy expenditure, and the resulting excess energy is stored as body

weight, primarily in the adipose tissue (Swinburn et al., 2011).

Adipose tissue was once thought to be an inert energy storage organ, but is emerging as a

crucial regulator of many physiological processes. In addition to regulating energy

homeostasis and nutrient metabolism, adipose tissue is involved in body temperature

control, regulation of blood pressure, the immune response, angiogenesis, bone mass,

hemostasis, and reproductive function (Rosen and Spiegelman, 2006).

In mammals, the predominant adipose tissue is white adipose tissue, which serves to store

energy in the form of neutral triglycerides in periods of fuel surplus (Rosen and Spiegelman,

2006). Triglycerides are stored as single or multiple droplets in the cytoplasm, which give

white adipocytes their characteristic round morphology. Storage of lipid in large amounts

and in a form that is not toxic to the body may be considered one of the most important

functions of adipocytes (Rosen and Spiegelman, 2006).

In addition to adipocytes, adipose tissue also contains preadipocytes, fibroblasts,

endothelial cells and a variety of immune cells, especially macrophages and T cells (Sun

et al., 2011). The presence of immune cells within the adipose tissue is highly regulated.

The dynamic interaction between these immune cells and adipocytes via cytokine and

chemokine signalling contributes to adipose tissue homeostasis and plays a critical role in

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adipose remodelling and the subsequent pro-inflammatory response frequently observed

in the obese state (Sun et al., 2011).

It is important to note that not all adipose tissues are equal – there are critical depot-specific

differences in terms of cell size, vasculature, expansion capacity, response to hormonal

signals and potential role in metabolic diseases (Ibrahim, 2010; Krotkiewski et al., 1983).

For example, visceral adipose tissue (VAT) that surrounds internal organs contains cells

that are more metabolically active and more sensitive to lipolysis than subcutaneous

adipose tissue (SAT), which is located beneath the skin (Ibrahim, 2010). VAT is also

generally considered more pathogenic such that its expansion is associated with

development of insulin resistance (Gastaldelli et al., 2002), whereas increased SAT does

not predispose to metabolic dysfunction (Ibrahim, 2010).

I.1.2.2 Adipogenesis

Adipose tissue arises from multipotent fibroblasts in the embryonic mesoderm (Rosen and

MacDougald, 2006). These fibroblasts are capable of differentiating into preadipocytes,

cartilage, bone or muscle. In humans, differentiation of preadipocytes begins during the

late embryonic development stage and occurs most extensively after birth, although

preadipocytes retain the ability to differentiate throughout life (Burdi, 1985). On the other

hand, in rodents, the process of preadipocyte differentiation begins after birth (Ailhaud,

1992).

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Study of the murine preadipocyte 3T3-L1 cell line has provided valuable insight into the

regulation of adipogenesis (Green and Kehinde, 1975). For practical purposes, adipocyte

differentiation is generally divided into two phases. During the first phase, known as

determination, a pluripotent stem cell is committed to the adipocyte lineage, which results

in the formation of a preadipocyte that can no longer differentiate into other cell types

(Rosen and MacDougald, 2006). The second phase, known as terminal differentiation,

involves the acquisition of the characteristics of mature adipocytes by the preadipocyte

(Rosen and MacDougald, 2006).

The master regulator of terminal white adipocyte differentiation is peroxisome proliferator-

activated receptor gamma (PPARγ), a member of the nuclear receptor superfamily

(Spiegelman, 1998). Activation of this receptor in fibroblasts is both necessary and

sufficient for adipogenesis, with induction of morphological changes, lipid accumulation

and expression of genes important for adipocyte function (Tontonoz et al., 1994). Another

transcription factor family with an essential role in adipogenesis is CCAAT/enhancer-

binding proteins (C/EBPs). C/EBPβ and C/EBPδ are induced early during adipocyte

differentiation and drive the expression of PPARγ (Tanaka et al., 1997; Tang et al., 2003).

On the other hand, C/EBPα, which is induced by C/EBPβ and C/EBPδ, maintains PPARγ

expression in the later stages of differentiation and can activate many adipocyte genes

directly (Rosen et al., 2002; Wu et al., 1999).

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I.1.2.3 Role of white adipose tissue in lipid metabolism

Adipose tissue is an important regulator of whole-body lipid flux. During times of energy

shortage, activation of adrenergic receptors by catecholamines stimulates white adipocytes

to hydrolyze triglycerides in a process termed lipolysis (Emorine et al., 1989). This is

mediated through the action of lipases, mainly hormone sensitive lipase (HSL) and adipose

triglyceride lipase (ATGL) (Arner, 2005; Zimmermann et al., 2004). Briefly, activation of

adrenergic signalling in adipocytes leads to an increase in intracellular cyclic adenosine

monophosphate (cAMP) levels and subsequent activation of protein kinase A (PKA).

Activated PKA phosphorylates perilipin 1, thus promoting the release of comparative gene

identification 58 (CGI-58), which binds and stimulates ATGL (Lass et al., 2006).

Activated ATGL catalyzes the hydrolysis of triglycerides into diacylglycerols (DAGs)

(Zimmermann et al., 2004). In addition, phosphorylation of cytoplasmic HSL by PKA

leads to its activation and translocation to the surface of lipid droplets. Activated HSL binds

to phosphorylated perilipin 1, thereby gaining access to its DAG substrates and converting

them into monoacylglycerols (Zechner et al., 2012). Final hydrolysis of monoacylglycerols

is catalyzed by monoacylglycerol lipase (Zechner et al., 2012). The liberated glycerol and

free fatty acids (FFAs) are released into the circulation and transported to other peripheral

tissues for energy generation so carbohydrates are spared for use by neurons (Arner, 2005).

Glycerol is used as a gluconeogenic substrate in the liver, whereas FFAs are taken up by

most cell types and oxidized in the mitochondria (Arner, 2005).

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In the fed state, lipolysis in adipocytes is suppressed by insulin through its inhibitory action

on HSL (Frayn et al., 1994). At the same time, insulin promotes glucose uptake and

metabolism as well as de novo lipogenesis in adipose tissue (Frayn et al., 1994). Glucose

metabolism leads to the generation of acetyl-CoA, which is used by acetyl-CoA

carboxylase and fatty acid synthase to produce palmitate during de novo lipogenesis.

Palmitate is then modified by elongase and desaturase enzymes to generate other fatty acid

species (Hellerstein, 2001).

Nevertheless, most fatty acids in the adipose tissue come from dietary sources. Lipids

absorbed in the intestine are packaged into chylomicrons that enter the systemic circulation

via the lymphatic system (Brown et al., 1981). These chylomicrons deliver lipids to

peripheral organs including the adipose tissue, which expresses lipoprotein lipase that

hydrolyzes triglycerides in the chylomicrons (Goldberg, 1996). The released fatty acids are

then taken up into adipocytes. Together with lipids from de novo lipogenesis, these fatty

acids are esterified to triglycerides and stored.

I.1.2.4 Adipokines

In addition to lipid storage, adipocytes synthesize and secrete numerous soluble factors and

cytokines collectively referred to as adipokines (Ouchi et al., 2011). Different adipose

depots secrete distinct profiles of adipokines, and adipokine production can be modified

by changes in the structure and cellular composition of the tissue under both physiological

and pathological conditions (Samaras et al., 2010). These adipokines act locally in a

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paracrine fashion to regulate adipose tissue biology and signal systemically to various

organs to regulate a myriad of physiological functions (Ouchi et al., 2011). Some of the

more well-studied adipokines are discussed below.

I.1.2.4.1 Leptin

Leptin, the first adipokine identified to play a role in body weight regulation (Halaas et al.,

1995), was cloned as the product of the obese gene in ob/ob mice (Zhang et al., 1994).

These mice exhibit hyperphagia (abnormally increased appetite for food) and develop

marked obesity and insulin resistance, which can be reversed by exogenous leptin

treatment (Pelleymounter et al., 1995). Secreted mostly by the adipose tissue in proportion

to extent of adiposity, leptin acts on the central nervous system to repress food intake

(Friedman and Halaas, 1998). This action of leptin is mediated by OB-R leptin receptors,

which are structurally similar to class I cytokine receptors and activate the Janus kinase 2

(JAK2)-signal transducer and activator of transcription 3 (STAT3) pathway (Tartaglia et

al., 1995). The mediobasal hypothalamus expresses high levels of the leptin receptor, and

activation of leptin signalling in this region induces anorexigenic pathways such as those

involving pro-opionmelanocortin, POMC, and cocaine and amphetamine-regulated

transcript, CART, and suppresses orexigenic pathways including those involving

neuropeptide Y and agouti-related peptide, AgRP (Schwartz et al., 1996).

In addition to regulating food intake and energy balance, leptin plays a direct role in

glucose homeostasis through actions on peripheral metabolic tissues including skeletal

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muscle and the liver (Kamohara et al., 1997; Minokoshi et al., 2002). Administration of

leptin to ob/ob mice corrects hyperglycemia before any significant effect on body weight

(Pelleymounter et al., 1995). In addition, leptin improves insulin resistance and glucose

homeostasis in lipodystrophic mice and in humans with lipodystrophy or congenital leptin

deficiency (Oral et al., 2002; Shimomura et al., 1999).

Leptin is thought to have pro-inflammatory properties by stimulating the production of

TNF-α, IL-6 and reactive oxygen species (ROS) in monocytes and chemokine ligands in

macrophages (Kiguchi et al., 2009). In T cells, leptin induces the production of the Th1-

type cytokines, IFNγ and IL-2, and suppresses the Th2-type cytokine IL-4, thus favoring

polarization of T cells towards a Th1 phenotype (Lord et al., 1998).

I.1.2.4.2 Adiponectin

Adiponectin is produced almost exclusively by adipocytes and is present at high

concentrations in the plasma (Arita et al., 1999). Unlike most other adipokines, adiponectin

is released at a level inversely proportional to body weight and adiposity (Arita et al., 1999).

The adiponectin receptor comprises two structurally-similar transmembrane proteins with

homology to G protein-coupled receptors (AdipoR1 and AdipoR2) (Yamauchi et al., 2003).

Another protein, T-cadherin, lacks a transmembrane domain and is thought to act as a co-

receptor for the hexameric and high-molecular-weight form of adiponectin (Hug et al.,

2004).

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Treatment of obese mice with adiponectin increases fatty acid oxidation in the liver and

skeletal muscle by activating AMP-activated protein kinase (AMPK) (Tomas et al., 2002;

Yamauchi et al., 2002). In diabetic mice, adiponectin enhances insulin action and reduces

hyperglycemia (Berg and Scherer, 2005). Accordingly, lack of adiponectin was shown to

predispose mice to diet-induced insulin resistance (Maeda et al., 2002; Nawrocki et al.,

2006). These actions of adiponectin are mediated by AdipoR1 and AdipoR2, as disruption

of these receptors results in reduced AMPK activation, increased glucose production and

impaired insulin sensitivity (Yamauchi et al., 2007). In addition, adiponectin has been

shown to regulate peroxisome proliferator-activated receptor γ coactivator 1-alpha (PGC-

1α) and intracellular Ca2+ levels in the skeletal muscle through AdipoR1, which together

increase mitochondrial content and improve insulin sensitivity (Iwabu et al., 2010).

The metabolically beneficial role of adiponectin can be partly attributed to its anti-

inflammatory properties. Elevating adiponectin levels by recombinant protein treatment

(Xu et al., 2003a) or transgenic overexpression (Kim et al., 2007) in ob/ob mice suppressed

TNF-α production, whereas adiponectin deficiency was associated with increased TNF-α

expression in adipose tissue and in the circulation (Maeda et al., 2002). In line with this,

adiponectin has been shown to abolish LPS-stimulated TNF-α production in macrophages

in vitro (Yokota et al., 2000). Conversely, adiponectin stimulates the production of the

anti-inflammatory cytokine IL-10 in human macrophages (Kumada et al., 2004) and

promotes macrophage polarization towards an anti-inflammatory M2 state (Ohashi et al.,

2010).

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I.1.2.4.3 Tumour necrosis factor alpha (TNF-α)

TNF-α is a pro-inflammatory cytokine produced mainly by macrophages and plays a

central role in the inflammatory response. In 1993, TNF-α became the first cytokine shown

to be expressed by the adipose tissue and to have a direct role in obesity-associated insulin

resistance (Hotamisligil et al., 1993). Mechanistically, TNF-α signalling via its cognate

membrane receptors TNFR1 and TNFR2 impairs insulin-stimulated tyrosine

phosphorylation of the insulin receptor and IRS1 (Hotamisligil et al., 1994b).

Consequently, administration of TNF-α attenuates insulin action and glucose uptake both

in vitro and in vivo, whereas its neutralization in obese mice restores insulin sensitivity in

skeletal muscle and adipose tissue (Hotamisligil et al., 1994a; Hotamisligil et al., 1993;

Uysal et al., 1997).

I.1.2.4.4 Interleukin 6 (IL-6)

IL-6 is a pro-inflammatory cytokine produced by both immune cells and adipocytes.

Indeed, adipose tissue has been estimated to contribute approximately one-third of total

circulating IL-6 (Fried et al., 1998). IL-6 signals through a receptor complex comprised of

IL-6Rα and gp130, a shared signal transducer among the IL-6 family of cytokines, to

activate the JAK2-STAT3 pathway (Heinrich et al., 1998; Taga et al., 1989). Unlike TNF-

α, the role of IL-6 in glucose homeostasis has been controversial. Some studies demonstrate

that IL-6 suppresses insulin action in the liver in part by inducing expression of SOCS3

(Kim et al., 2004a; Senn et al., 2003), while other studies suggest a metabolically beneficial

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role of IL-6 such that its deficiency leads to mature-onset obesity (Wallenius et al., 2002)

and predisposes to HFD-induced hepatic insulin resistance and inflammation (Matthews et

al., 2010; Wunderlich et al., 2010). Of note, exercise, a known insulin sensitizer, leads to

the reversible synthesis and release of IL-6 from skeletal muscle (Steensberg et al., 2000),

which stimulates the production of anti-inflammatory cytokines and suppresses TNF-α

production (Petersen and Pedersen, 2005). Therefore, the divergent role of IL-6 in

metabolism may be related to the source of the cytokine, duration of release and/or the site

of action.

I.1.2.4.5 Resistin

Resistin, a member of the cysteine-rich resistin-like molecule (RELM) family (Steppan et

al., 2001b), was identified as an adipokine whose secretion was repressed by

thiazolidinedione drugs, which act as PPARγ agonists (Steppan et al., 2001a). In mice,

resistin expression is restricted to adipocytes (Steppan et al., 2001a). On the other hand,

human resistin is mainly produced by macrophages and peripheral blood mononuclear cells,

and is not detectable in adipocytes (Savage et al., 2001).

In mouse models, resistin has been shown to increase hepatic glucose output and induce

insulin resistance (Banerjee et al., 2004) in part by activating SOCS3 (Steppan et al., 2005).

In line with this, loss of resistin in ob/ob mice improved glucose tolerance and insulin

sensitivity (Qi et al., 2006). However, evidence for the metabolic effect of resistin in

humans remains inconclusive (Heilbronn et al., 2004; Lee et al., 2003). In addition, the

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bona fide receptor that mediates the biological actions of resistin is still controversial. Very

recently, the receptor for human resistin has been identified. It was shown that resistin

binds directly to adenylyl cyclase-associated protein 1 (CAP1) in human monocytes and

activates cAMP and PKA-dependent signalling (Lee et al., 2014c).

In mouse adipose tissue, resistin expression is inhibited by PPARγ agonists (Steppan et al.,

2001a), whereas in human peripheral blood mononuclear cells, resistin expression is up-

regulated by pro-inflammatory cytokines including IL-1, IL-6 and TNF-α (Kaser et al.,

2003), suggesting a pro-inflammatory role of this adipokine. Consistent with this, resistin

has been shown to promote IL-6 and TNF-α expression in human mononuclear cells

(Bokarewa et al., 2005) and increase the expression of pro-inflammatory adhesion

molecules in vascular endothelial cells (Verma et al., 2003). Furthermore, transgenic

expression of human resistin in mouse macrophages leads to the development of adipose

tissue inflammation and HFD-induced insulin resistance (Qatanani et al., 2009).

I.1.2.4.6 Monocyte chemoattractant protein 1 (MCP-1)

MCP-1 or chemokine (C-C motif) ligand 2 (CCL2) is a chemokine that regulates

trafficking and infiltration of monocytes and macrophages (Deshmane et al., 2009). White

adipose tissue is a major source of MCP-1, which has been shown to act as a paracrine to

impair insulin-stimulated glucose uptake and expression of lipogenic genes in vitro

(Sartipy and Loskutoff, 2003). In addition, MCP-1 released into the circulation induces

macrophage infiltration into adipose tissue and leads to subsequent inflammation (Kanda

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et al., 2006). As such, MCP-1 attenuates insulin sensitivity and promotes glucose

intolerance, and MCP-1 knockout mice are protected from HFD-induced adipose

inflammation and metabolic dysfunction (Kanda et al., 2006).

I.1.3 Brown adipose tissue (BAT)

Another important type of adipose tissue in mammals is BAT. Morphologically distinct

from white adipocytes, brown adipocytes are multilocular and rich in mitochondria

(Cannon and Nedergaard, 2004). They are located in dedicated depots and express, under

basal conditions, high levels of uncoupling protein 1 (UCP1), which dissipates the proton

gradient across the inner mitochondrial membrane and uncouples the electron transport

chain (Golozoubova et al., 2006). This leads to the generation of heat at the expense of

ATP production. Thus, brown adipose tissue plays an important role in non-shivering

thermogenesis and the maintenance of body temperature (Rothwell and Stock, 1979).

Another distinct type of heat-producing adipocytes develop in white adipose tissue,

particularly the inguinal depot (a SAT depot), in response to various stimuli (Wu et al.,

2012). These adipocytes are named beige, brite (brown in white), or inducible BAT.

Morphologically similar to brown adipocytes, beige adipocytes contain multilocular lipid

droplets and are rich in mitochondria (Wu et al., 2012). However, unlike brown adipocytes,

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they express UCP1 and other BAT-specific genes only in response to activators such as β

adrenergic stimulation or PPARγ agonists (Wu et al., 2013).

I.1.3.1 BAT and non-shivering thermogenesis

Non-shivering thermogenesis in brown and beige adipocytes is activated upon cold

exposure as an important mechanism to maintain body temperature and protect against

hypothermia. Consequently, mice lacking BAT function are cold intolerant (Enerback et

al., 1997). BAT is also activated following excessive caloric intake to preserve energy

balance and prevent weight gain (Rothwell and Stock, 1979). This cold- and diet-induced

thermogenesis is mainly controlled by the sympathetic nervous system via β3 adrenergic

receptors expressed on the surface of adipocytes (Morrison et al., 2012). Recently,

alternatively activated macrophages in the adipose tissue have been shown to produce

catecholamines in response to cold challenge and thus play a role in the regulation of

thermogenesis (Nguyen et al., 2011; Qiu et al., 2014).

Upon binding to its receptor in adipocytes, norepinephrine rapidly induces lipolysis and

release of fatty acids from lipid droplets (Collins and Surwit, 2001). The FFAs are oxidized

by mitochondria to generate a proton gradient across the inner mitochondrial membrane.

Subsequent proton leak and heat production through UCP1 is activated by long-chain fatty

acids released from the inner mitochondrial membrane through the action of phospholipase

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A2 (Fedorenko et al., 2012). In addition, increased sympathetic outflow drives

transcription of thermogenic genes including Ucp1 through the activity of PGC-1α

(Puigserver et al., 1998).

With prolonged cold exposure, proliferation and differentiation of brown adipocyte

precursors lead to expansion of BAT mass and enhancement of thermogenic capacity

(Bukowiecki et al., 1982). Similarly, in murine white adipose tissue, cold stimulates

sympathetic nerve fiber branching and promotes beige adipocyte development (Murano et

al., 2009). Indeed, treatment with the β3 adrenergic agonist CL 316,243 in mice mimics

the effect of cold exposure and markedly remodels white adipose tissue with beige

adipocyte differentiation and increased thermogenesis (Himms-Hagen et al., 2000; Vitali

et al., 2012)

In addition to the sympathetic nervous system, several other factors and hormones have

recently been identified to regulate thermogenesis in the adipose tissue. For example,

thyroid hormone directly activates thermogenic gene expression in BAT (de Jesus et al.,

2001). Bone morphogenetic protein 8b is produced by mature brown adipocytes, and

augments the response of BAT to adrenergic stimulation (Whittle et al., 2012). In addition,

when administered centrally, bone morphogenetic protein 8b increases sympathetic

outflow to BAT (Whittle et al., 2012). Fibroblast growth factor 21, a circulating hormone

secreted mostly from the liver, activates the thermogenic machinery in BAT

(Chartoumpekis et al., 2011) and enhances PGC-1α expression to drive beige adipocyte

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development in white adipose tissue (Fisher et al., 2012; Lee et al., 2014a). Natriuretic

peptides, produced by the heart in response to pressure overload, are recently shown to act

directly on adipocytes through activation of cyclic GMP-dependent protein kinase,

enhancing browning of white adipose tissue and thermogenic gene expression in BAT

(Bordicchia et al., 2012). Of note, beige adipocyte development can be activated without

any increase in BAT activity. For example, irisin, a newly-identified hormone secreted

from myocytes, stimulates browning of white adipose tissue and enhances energy

expenditure by selective actions on beige preadipocytes in both mice (Bostrom et al., 2012)

and humans (Lee et al., 2014a). Taken together, these factors and pathways could be

targeted for therapeutic effects and hold great promise for the treatment of obesity and

related complications, as discussed below.

I.1.3.2 BAT and metabolic control

The observation that genetic ablation of BAT in mice leads to development of obesity

indicate that the activity of BAT contributes to regulation of energy balance (Lowell et al.,

1993). In line with this, UCP1 deficient mice housed at thermoneutrality have impaired

BAT function and develop spontaneous obesity (Feldmann et al., 2009). However, another

study examining UCP1 knockout mice reported no change in body weight when mice were

maintained at various temperatures (Anunciado-Koza et al., 2011). Furthermore, BAT

activity did not seem to have a significant contribution to diet-induced thermogenesis in

rats maintained at thermoneutrality (Ma et al., 1988). Thus, the physiological role of BAT

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in body weight regulation under basal conditions remains unclear. In fact, without

activation, UCP1 does not seem to contribute to basal mitochondrial uncoupling (Jastroch

et al., 2012; Shabalina et al., 2010).

Nevertheless, in various animal models, enhancing brown and/or beige adipocyte activity

through genetic, pharmacological or surgical manipulation correlates with obesity

resistance (Kopecky et al., 1995; Seale et al., 2011; Stanford et al., 2013). Increased brown

or beige adipocyte function also improves systemic metabolism, characterized by enhanced

glucose tolerance and increased insulin sensitivity (Bostrom et al., 2012; Kopecky et al.,

1995; Stanford et al., 2013). This has spurred great research interest to develop brown or

beige adipocyte activators for the treatment of obesity and metabolic diseases. However,

for many years, it was thought that human adults have no appreciable amount of BAT that

can influence body weight.

A few years ago, imaging studies identified the presence of active BAT in adult humans

(Cypess et al., 2009; Saito et al., 2009; van Marken Lichtenbelt et al., 2009; Virtanen et

al., 2009). These BAT depots increase energy expenditure in response to cold stimulation

(Cypess et al., 2012; Ouellet et al., 2012), and lead to enhanced whole-body glucose

disposal and insulin sensitivity (Chondronikola et al., 2014; Lee et al., 2014b). Importantly,

their activity was found to be inversely correlated with the severity of the metabolic

syndrome (Cypess et al., 2009; Saito et al., 2009), implicating a role for BAT in metabolic

regulation in humans. Given that UCP1 does not increase cellular energy expenditure under

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basal conditions (Jastroch et al., 2012; Shabalina et al., 2010), therapeutic strategies should

aim to augment brown or beige adipocyte activation in addition to promoting tissue

expansion.

Brown and beige adipocytes counteract body weight gain by promoting fuel utilization and

thus enhancing energy expenditure. Consistent with this notion, it has been shown that

increased BAT activity following short-term cold exposure leads to significant triglyceride

uptake and accelerated plasma triglyceride clearance, which corrected hyperlipidemia and

conferred metabolic benefits in mice (Bartelt et al., 2011). However, the extent of body

weight modulation following brown or beige adipocyte activation often seems modest

compared to the degree of improvement in glucose homeostasis (Bostrom et al., 2012;

Seale et al., 2011), suggesting that brown and beige adipocytes may confer metabolic

benefits through non-thermogenic mechanisms. Indeed, a recent report suggests that BAT-

derived IL-6 is required for the metabolically beneficial effects of BAT transplantation in

mice (Stanford et al., 2013). Further work is needed to delineate the exact molecular

mechanisms by which BAT regulates metabolism.

I.1.4 Pathogenesis of obesity-induced insulin resistance and metabolic dysfunction

The current paradigm for obesity-related insulin resistance and metabolic dysfunction

suggests that chronic lipid or energy overload associated with a positive energy balance

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induces cellular stress, which activates pro-inflammatory and oxidative stress signalling

cascades that perpetuate themselves and create a feed-forward loop, leading to impairment

in insulin signalling and disruption of metabolic homeostasis (Iyer et al., 2010) (Figure I-

1). Obesity-associated inflammatory response is characterized by chronic and systemic

low-grade inflammation, accompanied by presence of oxidative stress, disrupted adipokine

secretion, increased synthesis of acute-phase reactants, and recruitment of leukocytes to

inflamed tissues (Hotamisligil, 2006).

Evidence supporting the link between obesity and chronic inflammation comes from

clinical observations that obesity is associated with elevated levels of pro-inflammatory

proteins such as C-reactive protein (CRP), IL-6 and plasminogen activator inhibitor-1

(PAI-1) in the circulation (Esposito et al., 2003; Visser et al., 1999). Increased levels of

pro-inflammatory biomarkers such as CRP and IL-6 predict the development of obesity

complications including type 2 diabetes (Freeman et al., 2002; Pradhan et al., 2001).

Furthermore, treatment with anti-inflammatory agents such as salicylates and non-steroidal

anti-inflammatory drugs has been shown to improve metabolic function (Larsen et al.,

2007; Yuan et al., 2001).

I.1.4.1 Initiating events

Under physiological conditions, adipose tissue responds rapidly to alterations in nutrient

availability in a dynamic manner. To accommodate a surplus of energy, adipose tissue can

expand either by the proliferation and differentiation of precursor cells (hyperplasia) or by

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Figure I-1 Mechanism of obesity-induced adipose expansion and inflammation.

Adipose tissue from lean individuals contains Treg, Th2 CD4+ T cells and M2

macrophages which secrete the anti-inflammatory cytokine IL-10. Chronic lipid overload

and adipocyte hypertrophy leads to cellular stress, accompanied by tissue hypoxia,

extracellular matrix expansion, secretion of chemokines, and adipocyte death. This alters

the immune cell composition within the adipose tissue, leading to accumulation of CD8+

T cells, Th1 CD4+ T cells and M1 macrophages. Together these immune cells and

adipocytes secrete pro-inflammatory mediators that activate inflammatory and oxidative

signalling cascades that perpetuate themselves in a feed-forward loop. Dysfunctional

adipocytes also release increased levels of FFA. Together with pro-inflammatory factors,

they lead to impairment in insulin signalling and disruption of metabolic homeostasis.

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increasing the size of pre-existing adipocytes (hypertrophy) or both (Park et al., 2008). A

study using 14C tracer methods suggests that adipocyte number is relatively stable in adults,

with differentiation of preadipocytes balanced by adipocyte death (Spalding et al., 2008).

At early stages of excess energy intake, adipocyte size expansion is accompanied by

increased expression of lipogenic enzymes, additional triglyceride storage and near normal

rates of lipolysis (Sun et al., 2011). Healthy adipose tissue expansion also requires proper

recruitment of other stromal cells and adequate angiogenesis and vascularization, with

minimal activation of the extracellular matrix and no induction of the inflammatory

response (Sun et al., 2011). This adipose tissue remodelling is accelerated in the obese

state, and in some instances, may exceed the expansion capacity of adipose tissue or

compromise adipocyte function, leading to a variety of effects including hypoxia, fibrosis,

adipocyte death and chemokine secretion.

Hypertrophy of adipocytes without adequate blood supply creates a local hypoxic milieu,

evidenced by observations in obese individuals that suggest presence of poorly oxygenated

adipose tissue (Kabon et al., 2004). Recently, uncoupled adipocyte respiration and

increased oxygen consumption in response to energy excess has also been implicated in

development of local hypoxia in the adipose tissue (Lee et al., 2014d). Hypoxia activates

hypoxia-inducible factor 1 alpha (HIF-1α), a master regulator of the cellular response to

hypoxia, which up-regulates pro-inflammatory mediators in adipose tissue such as IL-6,

PAI-1, vascular endothelial growth factor and down-regulate anti-inflammatory cytokines

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including adiponectin (Hosogai et al., 2007). Adipocyte-specific activation of (HIF-1α)

enhanced the fibrotic response, suggesting that local hypoxia in the adipose tissue induces

fibrosis, which may subsequently stimulate the inflammatory response (Halberg et al.,

2009).

Aberrant adipose tissue expansion that occurs during obesity leads to adipocyte cell death

(Strissel et al., 2007). It has been proposed that this adipocyte death is a strong phagocytic

stimulus for macrophages. In line with this, macrophages have been observed to form

crown-like structures surrounding necrotic adipocytes to phagocytose the residual lipid

(Cinti et al., 2005), and the number of macrophages increases with the number of dead

adipocytes as obesity progresses (Strissel et al., 2007). In a model of inducible adipocyte

death, extensive adipocyte apoptosis stimulated significant macrophage accumulation

within the adipose tissue (Pajvani et al., 2005).

Macrophage recruitment and accumulation depends on the release of chemotactic signals.

In particular, high levels of MCP-1 released by adipocytes are sufficient to induce

macrophage recruitment to the adipose tissue (Kanda et al., 2006). As such, deletion of

Ccl2 or its receptor CC motif chemokine receptor 2 (CCR2) in mice confers protection

from macrophage accumulation and adipose tissue inflammation associated with HFD

feeding (Kanda et al., 2006; Weisberg et al., 2006). In addition to MCP-1, increased

expression levels of other chemokines such as chemokine (C-C motif) ligand 5 (CCL5),

chemokine (C-X-C motif) ligand 14 (CXCL14), macrophage inflammatory protein 1 alpha

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(MIP-1α), MCP-2 and MCP-3 have also been observed in adipose tissue of obese mice

(Nara et al., 2007; Xu et al., 2003b).

I.1.4.2 Alteration in immune cells

In lean individuals, the majority of resident T cells in the adipose tissue are Treg and Th2-

polarized CD4+ cells (Feuerer et al., 2009). Together with resident M2-activated

macrophages, they secrete the anti-inflammatory cytokine IL-10 and promote tissue repair

(Lumeng et al., 2007a). Early during the development of obesity, alterations in both the

number and type of T cells occur, with a reduction in the number of Treg cells and the

appearance of CD8+ effector T cells (Nishimura et al., 2009; Winer et al., 2009). In addition,

the number of Th1-polarized CD4+ T cells increases, which secrete interferon gamma

(IFN-γ) (Nishimura et al., 2009; Winer et al., 2009). Together with MCP-1 and other

chemotactic signals secreted by adipocytes (Kanda et al., 2006), this leads to the infiltration

of more macrophages, characterized by M1 activation and expression of pro-inflammatory

mediators including TNF-α, IL-6 and reactive oxygen species (ROS) (Duffaut et al., 2009;

Lumeng et al., 2007b; Weisberg et al., 2003). Resident adipose tissue macrophages also

switch their phenotype to an M1 state, with expression and secretion of pro-inflammatory

factors (Lumeng et al., 2007a; Patsouris et al., 2008). These cytokines and adhesion

molecules further stimulate the production of more pro-inflammatory effectors and the

recruitment of additional immune cells via a paracrine manner, creating a vicious cycle

that ultimately results in adipocyte dysfunction and systemic metabolic manifestation. In

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addition to T cells and macrophages, eosinophils, B cells, NK cells, NKT cells and mast

cells have also been implicated in obesity-associated inflammation (Liu et al., 2009;

O'Rourke et al., 2009; Ohmura et al., 2010; Winer et al., 2011; Wu et al., 2011a).

Nevertheless, the specific contribution of individual immune cell types to systemic

metabolic dysfunction remains to be elucidated.

I.1.4.3 Disrupted adipokine secretion

Alteration in adipocyte function under obese conditions leads to an imbalance in the

synthesis and release of pro- and anti-inflammatory adipokines. Most adipokines are up-

regulated with the development of obesity. For example, obese individuals often exhibit

elevated leptin levels in the blood but without the expected anorexic response, suggesting

the presence of leptin resistance (Friedman and Halaas, 1998). In addition, studies in

animal models of obesity and type 2 diabetes indicate elevated expression and secretion of

TNF-α (Hotamisligil et al., 1993), IL-6 (Boucher et al., 2005), resistin (Steppan et al.,

2001a), and MCP-1 (Sartipy and Loskutoff, 2003), and these observations have been

extended to humans (Fried et al., 1998; Kern et al., 1995). Importantly, weight loss is often

accompanied by reductions in pro-inflammatory adipokine levels (Esposito et al., 2003;

Ziccardi et al., 2002), suggesting that these disruptions are dependent on adipose mass and

are reversible.

In contrast to pro-inflammatory cytokines, the production and release of adiponectin is

suppressed in the obese state, and plasma adiponectin levels are negatively associated with

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visceral adiposity (Yatagai et al., 2003). Consistent with this, adiponectin expression is

inhibited by the pro-inflammatory mediators TNF-α, IL-6 and oxidative stress (Hosogai et

al., 2007).

Together, adipokines with pro-inflammatory properties can promote insulin resistance by

enhancing the synthesis and release of other pro-inflammatory mediators (as in the case of

leptin, resistin, and MCP-1), activating the c-Jun N-terminal kinase (JNK) and IκB kinase

(IKKβ)/nuclear factor kappa B (NF-κB) pathways (in the case of TNF-α), inducing

expression of SOCS3 (such as by resistin and IL-6) or by promoting production of ROS

(by TNF-α) (Rosen and Spiegelman, 2006). Increased pro-inflammatory adipokines also

act on adipocytes in a feed-forward loop to further compromise adipocyte function by

suppressing insulin action, thereby inhibiting lipogenesis and promoting lipolysis (Hu et

al., 1996; Langin and Arner, 2006).

I.1.4.4 Elevated FFA levels and lipotoxicity

FFAs are released into the circulation primarily during fasting as a result of increased

lipolysis. Acutely, circulating FFAs promote hepatic glucose production, reduce glucose

uptake by adipose tissue and skeletal muscle and induce insulin secretion from pancreatic

β cells (Roden et al., 1996). Under chronic pathological conditions such as obesity or

lipodystrophy, elevated levels of pro-inflammatory cytokines enhance lipolysis and lead to

release of excessive FFAs into the bloodstream. As such, circulating FFA levels have been

shown to positively correlate with the degree of obesity in humans (Boden, 1997; Kelley

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et al., 1993). Elevated plasma FFA levels induce peripheral insulin resistance (Boden, 1997;

Kelley et al., 1993). In the setting of insulin resistance, insulin can no longer suppress

lipolysis, resulting in the release of more FFAs and creating a vicious cycle that ultimately

impairs glucose homeostasis.

Excessive FFAs accumulate in ectopic sites such as the heart, pancreas, liver and skeletal

muscle. These tissues are not designed to store large amounts of fat and are susceptible to

the toxic effects of excess lipids (lipotoxicity). For example, in the pancreas, FFAs,

especially saturated fatty acids, induce β-cell apoptosis and reduce insulin secretion

(Bollheimer et al., 1998). In contrast, in the liver and skeletal muscle, saturated fatty acids

attenuate insulin signalling (Kim et al., 2001) and decrease insulin-stimulated glucose

uptake by impairing GLUT4 translocation (Dresner et al., 1999). Lipid over-accumulation

in the liver, also known as fatty liver disease, will be discussed in more detail in Section

I.2.

In addition to FFAs, other bioactive lipid metabolites have also been shown to exacerbate

obesity-associated insulin resistance. These include DAG, produced by the action of

phospholipase C or by the triglyceride synthesis pathway (Yu et al., 2002), and the

sphingolipid ceramide, whose biosynthesis depends on the availability of saturated fatty

acids (Hannun, 1994). These lipid metabolites function as second messengers in key

signalling pathways where DAG activates members of the protein kinase C (PKC) family

(Yu et al., 2002), and ceramide inhibits insulin-induced Akt activation (Holland et al.,

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2007). Accordingly, inhibition of their biosynthesis confers protection from HFD-induced

insulin resistance in mice (Choi et al., 2007; Holland et al., 2007).

Potential molecular mechanisms that mediate lipotoxicity include activation of PKC

isoforms (Griffin et al., 1999; Schmitz-Peiffer et al., 1997), oxidative stress (Paolisso et

al., 1996), endoplasmic reticulum (ER) stress (Ozcan et al., 2004), and induction of innate

immunity through toll-like receptor (TLR) isoforms, particularly TLR2 (Senn, 2006) and

TLR4 (Shi et al., 2006b). These pathways likely do not function independently, but work

together in a concerted manner to coordinate the cellular response to systemic cytokine or

nutrient signals.

I.1.4.5 Oxidative stress

Reactive oxygen species (ROS) are produced at a low level as by-products of normal

cellular metabolism and are scavenged by endogenous antioxidant systems (Bashan et al.,

2009). Overproduction of ROS or failure of the antioxidant defense network leads to redox

imbalance and oxidative stress (Houstis et al., 2006). Extensive evidence in the literature

suggests the presence of oxidative stress under obese conditions (Abdul-Ghani et al., 2009;

Dandona et al., 1996), and studies in animal models have established a causal contribution

of oxidative stress to obesity-associated insulin resistance (Anderson et al., 2009;

Furukawa et al., 2004; Houstis et al., 2006).

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Activation of the innate immune system during expansion of the adipose tissue leads to

release of ROS, particularly from macrophages. In addition, with energy surplus, increased

supply of nutrients and elevated substrate oxidation leads to the overproduction of ROS

from increased mitochondrial respiration in metabolic tissues (Dandona et al., 1996;

Furukawa et al., 2004). ROS contribute to cell injury directly by oxidative damage of

macromolecules, ultimately inducing apoptosis or senescence (Dandona et al., 1996).

Oxidative stress also causes mitochondrial alteration and promote mitochondrial

dysfunction (Bonnard et al., 2008), further reducing the efficiency of the respiratory chain.

Indeed, oxidative stress disrupts pancreatic β-cell mitochondrial homeostasis, thereby

impairing insulin secretion and causing β cell apoptosis (Maechler et al., 1999). In addition,

ROS activate cellular stress-sensitive and pro-inflammatory signaling pathways (Kyriakis

and Avruch, 2001; Tak and Firestein, 2001). Inflammatory signaling in turn promotes

generation of more ROS, particularly from the membrane-bound enzyme complex

NAD(P)H oxidase, thus creating a positive-feedback loop that leads to cellular damage and

metabolic dysfunction (Evans et al., 2002).

I.1.4.6 Molecular mechanisms of insulin resistance

I.1.4.6.1 JNK and IKKβ/NF-κB signalling

Many of the pro-inflammatory mediators discussed above activate the JNK and IKKβ/NF-

κB pathways. Pro-inflammatory cytokines including TNF-α and IL-1β activate JNK and

IKKβ/NF-κB through receptor-mediated mechanisms via their cognate receptors (Liu et

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al., 1996). FFAs, especially saturated fatty acids, bind to and activate TLR4, one of the

pattern recognition receptors that recognize foreign molecules (Lee et al., 2001), which

also leads to the activation of JNK and IKKβ/NF-κB. Other activators of the JNK and

IKKβ/NF-κB pathways include cellular stress such as oxidative and ER stress, ceramides

and certain PKC isoforms (Shoelson et al., 2006).

JNK attenuates insulin signalling through serine phosphorylation of IRS-1, which inhibits

tyrosine phosphorylation and consequently insulin signal transduction (Aguirre et al.,

2002). In contrast, activation of IKKβ targets the NF-κB inhibitor alpha (IκBα) for

proteasomal degradation, which frees NF-κB for translocation into the nucleus to modulate

transcription of target genes. Numerous target genes of the IKKβ/NF-κB pathway induce

insulin resistance including TNF-α, IFNγ, resistin and IL-1β, which further activate JNK

and IKKβ/NF-κB signalling in a self-perpetuating cycle. Accordingly, genetic or

pharmacological attenuation of JNK or IKKβ signalling improves insulin signalling and

confer protection from HFD-induced insulin resistance by reducing obesity-associated

inflammation (Hirosumi et al., 2002; Yuan et al., 2001)

I.1.4.6.2 Protein kinase C (PKC) activation

PKC proteins belong to a family of AGC protein kinases that catalyze the phosphorylation

of serine/threonine residues on their respective substrates (Nishizuka, 1984). Depending

on the specific isoform, activation of PKC enzymes may require both Ca2+ and DAG

(conventional PKCs), DAG alone (novel PKCs) or neither (atypical PKCs) (Newton, 1995).

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Activation of novel PKC isoforms including PKCθ, ε and δ by DAG has been linked to

induction of insulin resistance. Accordingly, mice lacking PKCθ are protected from lipid-

induced insulin resistance in skeletal muscle (Kim et al., 2004b), whereas deficiency of

PKCε or δ improves insulin sensitivity and glucose tolerance in the liver (Bezy et al., 2011;

Samuel et al., 2007). Novel PKCs have been suggested to impair insulin signalling by

interfering with insulin receptor activation (Samuel et al., 2007), and putative PKC

phosphorylation sites on the insulin receptor have been identified (Lewis et al., 1990). In

addition, PKCθ has been shown to phosphorylate Ser1101 on IRS-1, thereby inhibiting

insulin-stimulated tyrosine phosphorylation and consequently insulin signal transduction

(Li et al., 2004).

I.1.4.6.3 Induction of SOCS proteins

In addition to activating JNK or IKKβ pathways, pro-inflammatory cytokines such as IFNγ,

TNF-α and IL-6 induce insulin resistance by activating SOCS expression, particularly

SOCS1 and SOCS3 (Howard and Flier, 2006). SOCS proteins suppress insulin signalling

by inhibiting the kinase activity of the insulin receptor (Mooney et al., 2001; Ueki et al.,

2004a), competing with IRS proteins for binding to the insulin receptor (Ueki et al., 2004a),

and/or inducing proteasomal degradation of the IRS proteins (Rui et al., 2002). Consistent

with a role of SOCS in insulin resistance, SOCS1 deficiency in mice increased IRS2

expression and tyrosine phosphorylation and enhanced hepatic insulin sensitivity

(Jamieson et al., 2005), whereas constitutive expression of either SOCS1 or SOCS3 in

mouse livers led to glucose intolerance and insulin resistance associated with a significant

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reduction in IRS protein levels (Rui et al., 2002; Ueki et al., 2004b). In the adipose tissue

and the muscle, SOCS3 deficiency resulted in increased insulin-stimulated IRS

phosphorylation and glucose uptake (Jorgensen et al., 2013; Palanivel et al., 2012; Shi et

al., 2004). Conversely, transgenic overexpression of SOCS3 in adipocytes or muscle

reduced insulin-stimulated IRS phosphorylation, leading to diminished glucose uptake (Shi

et al., 2006a; Yang et al., 2012).

I. 2. Non-Alcoholic Fatty Liver Disease (NAFLD)

I.2.1 NAFLD

Non-alcoholic fatty liver disease (NAFLD) occurs when lipid is deposited in the liver in

the absence of excessive alcohol intake (generally defined as <20 g per day for women and

<30 g per day for men) (Angulo, 2002). The prevalence of NAFLD is rapidly increasing

in parallel with the unprecedented worldwide epidemic of obesity and type 2 diabetes, and

is now considered to be the leading cause of chronic liver disease (Tiniakos et al., 2010).

A study in US adults showed that NAFLD accounts for the majority (69%) of cases of

elevated transaminase levels (Clark et al., 2003).

Estimates of the prevalence of NAFLD are influenced by the method used to diagnose

steatosis and the approach used to assess alcohol intake (Bellentani et al., 2010). Using the

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highly sensitive technique of magnetic resonance spectroscopy, the prevalence of NAFLD

was estimated to be 32% in a population study of US individuals (Browning et al., 2004).

Using ultrasonography, the prevalence of NAFLD has been estimated to range from 13%

to 25% in population studies from China, Japan and Italy (Bedogni et al., 2005; Fan et al.,

2005; Jimba et al., 2005). Particularly alarming are the data showing that NAFLD has

become the most common cause of liver disease in the pediatric population (Schwimmer

et al., 2006). Therefore, a better understanding of the mechanisms underlying the etiology

and pathogenesis of NAFLD and associated metabolic derangements is of great importance

for the development of effective preventive and therapeutic strategies.

I.2.2 Disease spectrum of NAFLD

NAFLD comprises a disease spectrum, spanning from simple steatosis to more advanced

stages of non-alcoholic steatohepatitis (NASH) and varying degrees of fibrosis, and finally

to cirrhosis, end-stage liver failure and in some cases, hepatocellular carcinoma (Angulo,

2002). Steatosis, characterized by the accumulation of triglyceride-rich lipid droplets in the

cytoplasm of hepatocytes, is defined as hepatic triglyceride level exceeding 55 mg per gram

of liver tissue, or by the presence of triglyceride droplets in more than 5% of hepatocytes

from histological analysis (Szczepaniak et al., 2005). Simple steatosis is generally thought

to be benign and reversible with a non-progressive clinical course; however, in about 20-

30% of individuals, steatosis can progress to NASH, which constitutes hepatocellular

injury, activation of the inflammatory response and collagen deposition (Farrell and Larter,

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2006). NASH is a more aggressive disorder with the potential to progress to cirrhosis and

other advanced complications (Argo and Caldwell, 2009; Starley et al., 2010). Whether

steatosis always precedes NASH or whether the two represent distinct disease entities

remains controversial, and factors responsible for the switch from steatosis to

steatohepatitis in individuals with progressive disease have not been clearly defined.

I.2.3 Role of the liver in metabolism

I.2.3.1 Role of the liver in glucose metabolism

The liver is a vital organ that plays an indispensable role in nutrient metabolism. In addition

to contributing to post-prandial glucose uptake, the liver synthesizes glycogen as an energy

storage form (Hers et al., 1970). Glycogen synthesis is stimulated by insulin through

activation of the enzyme glycogen synthase (Cross et al., 1995). In the fasting state,

glycogen is broken down in the process of glycogenolysis to release glucose into the

bloodstream. In addition, non-carbohydrate substrates such as pyruvate, lactate, glycerol

and some amino acids are converted to glucose in the process of gluconeogenesis. Both

glycogenolysis and gluconeogenesis serve to maintain fasting blood glucose levels and are

inhibited by insulin in the fed state (Dinneen et al., 1992).

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I.2.3.2 Role of the liver in lipid metabolism

With respect to lipid metabolism, in the fed state, the liver synthesizes and releases

triglyceride-rich very low density lipoprotein (VLDL) to supply triglycerides to peripheral

tissues (Tall, 1990). The fatty acids used for hepatic triglyceride synthesis are derived from

three different sources, diet, de novo lipogenesis and the adipose tissue. Dietary lipids are

transported to the liver via chylomicron remnants after uptake of the majority of lipids in

chylomicrons by peripheral tissues (Tall, 1990). Under conditions of energy surplus,

particularly with carbohydrate feeding, citrate, an intermediate in the citric acid cycle,

accumulates in the mitochondria and enters the cytosol where it is converted to acetyl CoA,

a precursor for fatty acids synthesis (Hellerstein et al., 1996). Similar to the adipose tissue,

de novo lipogenesis in the liver is up-regulated by insulin (Saltiel and Kahn, 2001). Two

transcription factors, sterol regulatory element binding protein 1c (SREBP-1c) and

carbohydrate response element binding protein (ChREBP), drive de novo lipogenesis, and

are activated by insulin and glucose, respectively (Dentin et al., 2005). SREBP-1c and

ChREBP work synergistically to induce expression of acetyl CoA carboxylase and fatty

acid synthase, as well as elongase and desaturase enzymes that catalyze elongation and

desaturation steps (Horton et al., 2003; Iizuka et al., 2004). Additionally, lipolysis of the

adipose tissue releases FFAs into the circulation, mostly bound to albumin, and the liver

takes up these FFAs via simple diffusion or facilitated transport mediated by fatty acid

transport proteins such as CD36 (Hajri et al., 2002). FFAs in the liver can be channeled

through three major pathways (Musso et al., 2009). They can be coupled to a glycerol

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backbone via ester bonds to form triglycerides and subsequently stored in lipid droplets.

Alternatively, triglycerides can be assembled with apolipoproteins and secreted as a

component of VLDL. In the fasting state, FFAs are oxidized in the mitochondria to produce

energy and ketone bodies, which are exported as fuel for other tissues.

I.2.4 Pathogenesis of NAFLD

I.2.4.1 Development of steatosis

Steatosis occurs when the rate of influx or de novo synthesis of lipids exceeds the rate of

export or catabolism in the liver. Studies of single-gene mutations resulting in profound

fatty liver have shed light on both normal hepatic lipid metabolism and the pathogenesis

of hepatic steatosis in humans. For instance, familial lipodystrophy causes severe fatty liver

as a consequence of partitioning of triglycerides from adipose tissue to the liver (Caux et

al., 2003), whereas citrin deficiency and glycogen storage disease type 1 are associated

with increased hepatic de novo lipogenesis, leading to steatosis (Bandsma et al., 2008;

Komatsu et al., 2008). Hepatic steatosis may also arise from an impairment in fatty acid β-

oxidation (e.g., deficiency in acyl-CoA dehydrogenase genes), or from disturbances in

triglyceride export, such as in the case of abetalipoproteinemia (caused by mutations in the

microsomal triglyceride transfer protein (MTTP) gene that assembles triglycerides with

lipoproteins to form VLDL) (Avigan et al., 1984) and familial hypobetalipoproteinemia

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(caused by mutations in the structural protein apolipoprotein B (APOB) gene) (Whitfield

et al., 2005).

However, in the majority of individuals with NAFLD, steatosis does not result from

inheritable genetic mutations. Rather, the dramatic increase in the prevalence of NAFLD

in recent decades is closely associated with the current obesity epidemic (Cohen et al.,

2011). Obesity-related conditions of insulin resistance plays a key pathogenic role in the

development of steatosis. Using the hyperinsulinemic euglycemic clamp, insulin resistance

was a universal finding in individuals with NAFLD (Sanyal et al., 2001). Indeed, NAFLD

is now regarded as the hepatic manifestation of the metabolic syndrome.

In the setting of insulin resistance, the rate of peripheral adipose lipolysis is increased due

to inadequate suppression of HSL, leading to enhanced FFA flux to the liver and

subsequent esterification into triglycerides (Lewis et al., 2002). Hyperinsulinemia and

hyperglycemia associated with insulin resistance activate the two lipogenic transcription

factors, SREBP-1c and ChREBP, respectively (Dentin et al., 2005), which induce

expression of acetyl-CoA carboxylase. Accumulation of malonyl-CoA, the product of

acetyl-CoA carboxylase (Wakil et al., 1983), impairs fatty acid β-oxidation by inhibiting

liver carnitine palmitoyltransferase I, which regulates the transport of fatty acyl-CoAs from

the cytosol into the mitochondria (McGarry et al., 1977). In obese humans with NAFLD,

lipid export in the form of VLDL is also insufficiently low relative to the accumulation of

lipid in the liver (Fabbrini et al., 2008). Using a stable isotope approach, Donnelly et al.

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(Donnelly et al., 2005) quantified the relative contribution of different sources of fatty

acids to hepatic triglycerides in individuals with NAFLD. An estimated 59% of hepatic fat

is derived from circulating FFA released from the adipose tissue, whereas 26% is derived

from de novo lipogenesis and the remaining 15% from the diet (Donnelly et al., 2005).

Buildup of FFA and its metabolites in the liver can in turn exacerbate hepatic insulin

resistance via activation of PKC, JNK and NF-κB pathways, thus creating a positive

feedback cycle (Cai et al., 2005).

I.2.4.2 Progression to NASH

In the late 1990s, Day and James proposed a model to explain how simple steatosis

progresses to NASH in only a subset of individuals. In this model, the development of the

full spectrum of NAFLD occurs by a “two-hit” process where steatosis provides the first

“hit”, which leads to metabolic and molecular alterations that sensitize the liver to a

secondary insult from factors such as oxidative stress, mitochondrial dysfunction, ER stress

and pro-inflammatory cytokines, culminating in inflammatory damage and liver injury

(Day and James, 1998) (Figure I-2). However, accumulating evidence indicates that

hepatic over-storage of triglycerides per se is not a requirement for development of

inflammation and may even be hepatoprotective (Yamaguchi et al., 2007). For example,

transgenic overexpression of diacylglycerol acyltransferase (Dgat) in murine hepatocytes,

an enzyme catalyzing the final step in triglyceride synthesis, did not lead to activation of

the inflammatory response or insulin resistance despite triglyceride accumulation

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Figure I-2 Proposed mechanism of NAFLD pathogenesis.

Obesity-associated insulin resistance increases rate of lipolysis in the adipose tissue and

the influx of FFA to the liver. In addition, insulin resistance up-regulates lipogenic

transcription factors SREBP1c and ChREBP, which promotes de novo lipogenesis.

Together with reduced fatty acid oxidation, VLDL export or sometimes genetic

predisposition, this leads to lipid accumulation in the liver. Steatosis is thought to sensitize

the liver to a secondary insult. Adipose tissue inflammation contributes to NASH

development by promoting the release of pro-inflammatory mediators, which induce

oxidative stress, mitochondrial dysfunction and ER stress, leading to a pro-inflammatory

and pro-fibrogenic response in hepatocytes. Increased LPS concentration during obesity

also contributes to inflammatory signalling, culminating in hepatocellular damage, fibrosis

and liver injury.

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(Monetti et al., 2007). Conversely, inhibiting triglyceride synthesis by DGAT2 antisense

oligonucleotide treatment decreased hepatic steatosis but aggravated liver injury in a

mouse model of steatohepatitis induced by a methionine choline deficient diet (Yamaguchi

et al., 2007). Using the same dietary model to induce steatohepatitis, Li et al. (Li et al.,

2009) showed that mice deficient in stearoyl-CoA desaturase 1 (SCD1) had elevated levels

of saturated fatty acids in their livers and were more prone to hepatocellular apoptosis and

liver injury despite less triglyceride accumulation. In addition, free palmitic acid (16:0)-

induced apoptosis in vitro could be rescued by supplementation with oleic acid (18:1),

which favors esterification into triglycerides (Listenberger et al., 2003). Therefore,

partitioning lipid into the inert triglyceride form may represent a compensatory effort of

the liver to shunt excess lipids into a storage pathway to minimize lipotoxicity.

As discussed above in Section I.1.4.4, a surplus of FFA, if not shuttled to storage, may

enter deleterious pathways leading to cell injury and death via FFA metabolites such as

DAG and ceramides. FFA may predispose hepatocytes to apoptotic cell death by up-

regulating death receptors such as Fas and TRAIL receptor 5 (Feldstein et al., 2003; Malhi

et al., 2007), or by activating the pro-apoptotic proteins Bim and Bax in a JNK-dependent

manner (Malhi et al., 2006). FFA could also induce mitochondrial membrane

permeabilization and increase ROS production (Feldstein et al., 2004). In addition to

activating pro-inflammatory pathways, ROS can contribute to the production of fibrogenic

mediators by hepatic resident macrophages and hepatic stellate cells, predisposing to the

development of hepatic fibrosis (Albano et al., 2005).

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Development and progression of NAFLD also involve the interplay of the liver and other

organs including the gastrointestinal tract and the adipose tissue. Recently, several lines of

evidence have implicated a role of the intestinal microbiota in NAFLD development

(Dumas et al., 2006; Henao-Mejia et al., 2012; Tremaroli and Backhed, 2012), in part by

adversely influencing risk factors for steatosis such as obesity and insulin resistance. For

example, development of obesity is associated with a change in the composition of the gut

flora in both mice (Ridaura et al., 2013; Turnbaugh et al., 2006) and humans (Ley et al.,

2006; Zhang et al., 2009). Inoculation of germ-free mice with gut microbiota from obese

ob/ob mice resulted in more efficient calorie extraction and increased weight gain than

mice inoculated with microbiota from lean animals (Turnbaugh et al., 2006), suggesting

that the gut microbiota can determine energy absorption from the diet and, thereby,

influence body weight. Furthermore, HFD feeding promoted the growth of

lipopolysaccharide (LPS)-containing microbiota (Cani et al., 2007) and was associated

with more efficient transport of LPS from gut lumen into the portal blood (Amar et al.,

2008). Administration of LPS, a component of the bacterial endotoxin, induces an insulin

resistant state in mice reminiscent of that induced by HFD feeding (Cani et al., 2007). The

molecular pathway mediating the effects of LPS is thought to involve binding of LPS to

LPS-binding protein and subsequent interaction of this complex with CD14 on

macrophages. TLR4 then associates with CD14, triggering an intracellular inflammatory

cascade to stimulate secretion of pro-inflammatory cytokines such as TNF-α, IL-1 and IL-

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6 (Beutler et al., 2003). These cytokines induce insulin resistance and promote

inflammatory progression of steatosis to NASH.

Visceral adiposity plays a cardinal role in the development of NASH (Gastaldelli et al.,

2009). Indeed, the amount of visceral fat has been shown to correlate with the degree of

hepatic inflammation and fibrosis in individuals with NAFLD independent of insulin

resistance and hepatic steatosis (van der Poorten et al., 2008). Pro-inflammatory cytokines

and adipokines secreted in association with expansion of the visceral adipose tissue are

transported directly to the liver via the portal vein and induce inflammatory injury,

ultimately leading to NASH (Marra et al., 2008). For instance, TNF-α signalling in

hepatocytes leads to activation of caspases and the apoptotic pathway (Schwabe and

Brenner, 2006). Consequently, mice genetically deficient in TNFR1 were resistant to liver

injury induced by a methionine choline deficient diet (Tomita et al., 2006). Furthermore,

both hepatic expression and serum levels of IL-6 were elevated in NASH (Cai et al., 2005;

Wieckowska et al., 2008). However, the exact role of IL-6 in NASH pathogenesis is

debated and may depend on the duration of exposure (Jin et al., 2006). Given the central

role of cytokines in pro-inflammatory signalling, pathways that mediate signal transduction

of these cytokines, such as the JAK-STAT pathway, may be important in the pathogenesis

of obesity-associated insulin resistance and the progression of simple steatosis to NASH.

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I. 3. Janus Kinase 2 (JAK2)

I.3.1 JAK-STAT signalling

The Janus kinase-signal transducers and activators of transcription (JAK-STAT) signalling

pathway, activated by a wide variety of cytokines and growth factors, plays a critical role

in cellular development, differentiation and host defense (Rane and Reddy, 2000). The four

members of the mammalian Janus kinase family, JAK1, JAK2, JAK3 and TYK2, are non-

receptor protein tyrosine kinases that associate with the intracellular domain of cytokine

receptors (Ghoreschi et al., 2009). Binding of the ligand to the receptor activates the JAK

kinases, which phosphorylate specific tyrosine residues within itself and the associated

receptor, forming high-affinity docking sites for subsequent recruitment of other signalling

molecules. These signalling proteins include the SH2 domain-containing STAT family of

transcription factors, IRS proteins and the adaptor protein Shc. To date, seven STAT

proteins (STAT1-4, 5a, 5b and 6) have been identified. Once recruited, STATs are

phosphorylated by JAK kinases, homo- or hetero-dimerize and translocate to the nucleus

where they bind to response elements on DNA and modulate transcription of downstream

target genes (Darnell et al., 1994) (Figure I-3). Each cytokine receptor activates a

characteristic set of JAK and STAT proteins. The mechanisms by which a limited number

of JAK kinases and STAT proteins transduce specific downstream signalling events from

a large number of cytokines are not well understood.

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Figure I-3 Canonical JAK-STAT signalling pathway.

Cytokine binding and subsequent receptor dimerization allows transphosphorylation and

activation of JAK kinases. JAK kinases then phosphorylate specific tyrosine residues on

the associated receptor, forming high-affinity docking sites for subsequent recruitment of

the Src homology 2 (SH2) domain-containing STAT proteins. Subsequently, the recruited

STATs are phosphorylated by JAK kinases, dimerize and translocate to the nucleus where

they bind to response elements on DNA and modulate transcription of downstream target

genes.

Adapted with permission from Macmillan Publishers Ltd: Levy DE and Darnell JE. STATs:

transcriptional control and biological impact. Nature Reviews Molecular Cell Biology.

3(9):651-62. © (2002)

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I.3.2 JAK protein structure and regulatory mechanisms

JAK kinases are large proteins containing more than a thousand amino acids with unique

structures that distinguish them from other members of the protein tyrosine kinase

superfamily (O'Shea et al., 2002) (Figure I-4). The carboxyl terminus is the catalytically

active kinase domain (Feng et al., 1997). Immediately adjacent to it is the pseudokinase

domain, which was presumed to lack intrinsic kinase activity (Wilks et al., 1991). The

pseudokinase domain is a unique feature of the JAK kinases in the protein tyrosine kinase

superfamily and plays an essential regulatory function (Saharinen and Silvennoinen, 2002).

Mutations in the pseudokinase domain have been shown to positively and negatively

regulate JAK kinase activity (Saharinen et al., 2000). Recently, it was shown that the

pseudokinase domain of JAK2 is a dual-specificity protein kinase that phosphorylates two

negative regulatory sites on JAK2 to repress its activity (Ungureanu et al., 2011). The

amino terminus of JAK kinases contains an SH2-like domain and a Band-4.1, ezrin, radixin,

moesin (FERM) homology domain. The role of the SH2 domain has not yet been

confirmed, but it has been suggested to play a structural role in receptor interaction (Radtke

et al., 2005). On the other hand, the FERM domain has been shown to mediate interaction

of JAKs with their cognate receptors and to regulate kinase activity (Chen et al., 1997b;

Zhou et al., 2001).

Negative regulation of JAK-STAT signalling is partly mediated by tyrosine phosphatases

such as CD45, SH2-domain containing phosphatase 1 (SHP-1), protein-tyrosine

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Figure I-4 Domain structure of JAK kinases.

JAK kinases have four functional domains. The amino terminus is the FERM domain,

which regulates catalytic activity and the interaction of JAK kinases with their cognate

receptors. Adjacent to the FERM domain is the SH2-like domain, which may mediate

receptor interaction. The pseudokinase domain regulates kinase activity, and the

catalytically active kinase domain is located at the carboxyl terminus. Upon activation, two

tyrosine residues in the kinase domain are transphosphorylated.

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phosphatase 1B (PTP1B) and T-cell protein tyrosine phosphatase, which dephosphorylate

and consequently inactivate JAK kinases (Irie-Sasaki et al., 2001; Myers et al., 2001).

Activity of STAT proteins in the nucleus is also regulated by protein inhibitors of activated

STAT (PIAS), which act as transcriptional repressors and block DNA binding by STAT

proteins (Shuai, 2006).

Another negative regulatory mechanism of JAK signalling is mediated by a family of eight

intracellular proteins including the suppressor of cytokine signalling (SOCS) 1 to 7 and

cytokine-inducible SH2 domain (CIS) (Hilton et al., 1998). Expressions of these SOCS

proteins are generally induced by cytokine-mediated JAK-STAT signalling, thus forming

a classic negative feedback loop (Greenhalgh and Hilton, 2001). SOCS proteins are

thought to down-regulate JAK-STAT signalling by targeting the cytokine receptor, JAK

kinases or STAT proteins for degradation via the ubiquitin-proteasome pathway through

interaction with a ubiquitin E3 ligase complex (Verdier et al., 1998; Zhang et al., 1999).

In addition, SOCS1 binds via its SH2 domain to phosphorylated JAKs, resulting in

inhibition of kinase activity (Endo et al., 1997). On the other hand, SOCS3 has been shown

to bind to the activated receptor to repress signalling (Nicholson et al., 1999; Sasaki et al.,

2000). In contrast, CIS does not affect JAK activity, but rather competes with STATs for

receptor docking sites to inhibit STAT activation (Yoshimura, 1998).

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I.3.3 Crosstalk of JAK-STAT with other signalling pathways

In addition to the canonical JAK/STAT pathway, JAKs can activate the

MAPK/extracellular signal-related kinase (ERK) pathway via a Ras-dependent mechanism

(Winston and Hunter, 1995). Furthermore, JAK kinases mediate the activation of IRS

proteins in response to a number of cytokines including IL-2, IL-4, IL-7, IL-9, IL-15,

leukemia inhibitory factor (LIF), type I interferons and growth hormone (GH) (Argetsinger

et al., 1995; Burfoot et al., 1997; Johnston et al., 1995). Phosphorylation of IRS and

subsequent activation of the downstream PI3K-Akt pathway are thought to account for the

insulin-like effects of acute GH stimulation, including stimulation of glucose transport,

lipogenesis and protein synthesis (Davidson, 1987). However, chronic GH treatment and

various pro-inflammatory cytokines such as IFNγ, TNF-α and IL-6 also attenuate insulin

signalling mediated by JAK-induced SOCS expression, particularly SOCS1 and SOCS3

(Fasshauer et al., 2004; McGillicuddy et al., 2009), as discussed above in Section I.1.4.6.

Accumulating evidence suggests that insulin also regulates JAK-STAT signalling. For

example, insulin and insulin-like growth factor 1 (IGF-1) could induce tyrosine

phosphorylation and activation of JAK1 and JAK2 in cells overexpressing the insulin

receptor or the IGF-1 receptor (Gual et al., 1998). In another study, JAK2 was shown to

associate with the insulin receptor and IRS-1 following stimulation with physiological

concentrations of insulin, and was rapidly phosphorylated and activated in insulin-sensitive

tissues of the rat (Saad et al., 1996). A study using siRNA to knock down JAK2 in L6

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myotubes demonstrated that JAK2 is critical in mediating the mitogenic effects of insulin

by activating the MAPK/Erk pathway, but does not seem to be required for insulin-induced

GLUT4 translocation and glucose uptake, which is mediated by the PI3K/Akt pathway

(Thirone et al., 2006). In response to insulin, STAT5 can be directly phosphorylated by the

insulin receptor independent of JAK2 (Chen et al., 1997a), and participates in the

transcriptional regulation of insulin target genes (Sawka-Verhelle et al., 2000). Reciprocal

regulation of the insulin and JAK-STAT signalling pathways suggests that JAK-STATs

may participate in mediating the effects of insulin and contribute to metabolic regulation

under both physiological and pathophysiological conditions.

I.3.4 In vivo function of JAK2

JAK2 is ubiquitously expressed and mediates signalling by single chain hormone receptors

(including receptors for GH, prolactin, erythropoietin and thrombopoietin), receptors that

share the common β chain (such as receptors for IL-3, IL-5 and granulocyte macrophage

colony stimulating factor), receptors that share the gp130 subunit (including receptors for

IL-6, ciliary neurotrophic factor (CNTF), oncostatin M (OSM) and LIF), and some class II

cytokine receptors (such as receptors for IFNγ) (Parganas et al., 1998). The essential

function of JAK2 was revealed by the generation of Jak2 knockout mice that die at

embryonic day E12.5 due to an impairment in definitive erythropoiesis (Neubauer et al.,

1998; Parganas et al., 1998). Disruption of erythropoietin signal transduction seems to be

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primarily responsible for the embryonic lethality in these knockout mice (Neubauer et al.,

1998).

In 2005, several independent groups identified an activating mutation in the pseudokinase

domain of the JAK2 gene (V617F) to be present in a high proportion of individuals with

myeloproliferative disorders, a group of hematological malignancies including primary

polycythemia vera, essential thrombocythemia and primary myelofibrosis characterized by

expansion of one or more myeloid lineages (Baxter et al., 2005; James et al., 2005;

Kralovics et al., 2005; Levine et al., 2005). The mutated kinase autophosphorylates and

becomes spontaneously active, allowing for the growth and survival of hematopoietic cells

in the absence of exogenous cytokine stimulation (James et al., 2005). Subsequently,

mutations in JAK2 were also identified in a subset of individuals with acute leukemia

(Bousquet et al., 2005; Murati et al., 2005). As such, there is a growing research interest

in the development of small molecule inhibitors for the treatment of JAK2-mediated

hematological diseases. One such inhibitor, ruxolitinib, has gained regulatory approval for

the treatment of myelofibrosis, and several others are currently being tested in clinical trials

(Quintas-Cardama et al., 2011).

Associations between common polymorphisms in the JAK2 gene and risk factors of

metabolic syndrome have been reported in humans (Ge et al., 2008; Penas-Steinhardt et

al., 2011), suggesting that JAK2 may play a role in the regulation of metabolic homeostasis.

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This is not surprising, given that a number of JAK2-activating cytokines and hormones

have well-known regulatory roles in energy metabolism in metabolic tissues.

Of note, GH, also known as somatotropin, activates its cognate receptor and the JAK2-

STAT5 pathway to regulate linear growth and a myriad of other physiological functions.

In the liver, pulsatile GH secretion stimulates production and secretion of IGF-1 and other

target genes such as SOCS proteins. Secreted IGF-1, which mediates the anabolic effects

of GH, subsequently inhibits GH release from the anterior pituitary via a negative feedback

loop (Sjogren et al., 1999). As such, mice lacking GH receptor (GHR) are dwarf with low

circulating levels of IGF-1 and increased GH (List et al., 2011). GH antagonizes insulin

action by increasing hepatic glucose production, reducing peripheral insulin sensitivity and

stimulating lipolysis in the adipose tissue such that GHR null mice are obese but extremely

insulin sensitive (Vijayakumar et al., 2010). Other metabolic effects of GH include

promoting lipid oxidation, increasing muscle mass, regulating pancreatic β cell growth and

enhancing insulin secretion (Berryman et al., 2013).

I.3.5 Role of JAK-STAT pathway in adipose physiology

I.3.5.1 Role of JAK-STAT pathway in WAT

Protein expression of STAT1, 3, 5A and 5B is modulated during adipogenesis (Harp et al.,

2001; Stephens et al., 1996), implicating a role for these STATs in fat cell development.

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PPARγ has been identified as a target gene of STAT1 (Hogan and Stephens, 2001), which

may mediate the suppressive effects of IFNγ on adipogenesis (Keay and Grossberg, 1980).

Conversely, the JAK2-STAT3 pathway is activated early during the proliferative phases

of 3T3-L1 adipogenesis (Deng et al., 2000) and regulates expression of the key adipogenic

transcription factor C/EBPβ (Zhang et al., 2011). Whether STAT3 plays a role in

regulating adipogenesis in vivo remains elusive. On the other hand, a role for STAT5 in

adipogenesis is strongly supported by evidence both in vitro and in vivo. Activation of

STAT5 occurs early during adipogenesis (Floyd and Stephens, 2003) and induces

expression of its potential target gene PPARγ (Kawai et al., 2007). Whole-body knockout

of STAT5 in mice resulted in fat pads one-fifth of the normal size (Teglund et al., 1998),

likely due to blunted adipogenesis during development. In addition, STAT5 has been

shown to mediate the adipogenic action of GH early during adipogenesis such that STAT5

antisense oligonucleotides attenuated GH-dependent differentiation of 3T3-F442A

preadipocytes (Yarwood et al., 1999).

In mature adipocytes, STAT proteins play distinct roles in adipocyte function and fuel

metabolism. In 3T3-F442A adipocytes, inhibition of lipoprotein lipase activity and

stimulation of lipolysis by IFNγ is likely mediated via transcriptional regulation by STAT1

(Doerrler et al., 1994; Hogan and Stephens, 2003). On the other hand, the STAT3-

activating factors leptin (Chen et al., 1996) and IL-6 (van Hall et al., 2003) induce lipolysis

in white adipose tissue. Furthermore, leptin and LIF inhibit fatty acid synthesis in white

adipose tissue by inhibiting the expression of lipogenic enzymes (Hogan and Stephens,

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2005a; Zvonic et al., 2003). As such, adipocyte-specific knockout of STAT3 and

knockdown of leptin receptor in mice both led to profound adiposity, predominantly as a

result of adipocyte hypertrophy (Cernkovich et al., 2008; Huan et al., 2003). While

knockout of STAT3 in adipocytes did not affect glucose homeostasis up to 20 weeks of

age (Cernkovich et al., 2008), mice with decreased adipose leptin signalling displayed

glucose intolerance early in life (Huan et al., 2003). Interestingly, while STAT5 promotes

adipogenesis, it represses the expression of fatty acid synthase (Hogan and Stephens,

2005b) and the lipid-binding protein adipocyte protein 2 (AP2) (Richter et al., 2003). In

line with this, STAT5-activating hormones including GH and prolactin exert anti-lipogenic

and lipolytic actions in the adipose tissue (Fain et al., 1999; Ling et al., 2003). GH has

been shown to promote HSL activity (Richelsen et al., 2000), and GH treatment up-

regulated expression of the lipid hydrolase patatin-like phospholipase domain-containing

protein 3 (PNPLA3) in humans with GH deficiency (Zhao et al., 2011). Consistent with

this, mice lacking the GHR are obese with fat accumulation predominantly in the

subcutaneous adipose tissue (List et al., 2011). Similarly, disruption of GHR specifically

in adipocytes leads to progressive obesity as a result of increased adipose tissue mass, but

with no change in glucose homeostasis up to 5 months of age (List et al., 2013).

I.3.5.2 Role of JAK-STAT pathway in BAT

Over the last few years, emerging evidence has linked JAK-STAT signalling to brown and

beige adipocyte biology. Tyk2, one of the JAK family members, was recently shown to

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regulate BAT differentiation through STAT3, which enhances protein stability of PR

domain containing 16 (PRDM16), a master regulator of brown and beige adipocyte

differentiation. Accordingly, knockout of Tyk2 resulted in impaired BAT function, and

development of obesity and glucose intolerance that could be restored by expression of a

constitutively active form of STAT3 (Derecka et al., 2012). STAT6, activated by IL-4, is

essential for activation of alternative macrophages in adipose tissue, which secrete

catecholamines to sustain cold-induced thermogenesis (Nguyen et al., 2011; Qiu et al.,

2014). Very recently, JAK inhibitors were identified by a small molecule screening

platform to promote “browning” of human adipocytes (Moisan et al., 2015). This

metabolic conversion was thought to be due to inhibition of interferon signalling and

activation of hedgehog signalling (Moisan et al., 2015).

A number of JAK2-activating cytokines and growth factors are known to regulate brown

and beige adipocyte biology. CNTF, first characterized as a growth and survival factor for

neurons, activates JAK2 and has been shown to potentiate induction of UCP1 in BAT by

β3 adrenergic agonists (Ott et al., 2002). Similarly, peripheral intravenous administration

of leptin in mice increased mRNA expression of thermogenic genes (Commins et al., 1999;

Sarmiento et al., 1997) and glucose utilization in BAT (Siegrist-Kaiser et al., 1997).

Furthermore, treatment with human GH for 10 days up-regulated UCP1 mRNA levels in

BAT from KK-Ay obese mice (Hioki et al., 2004). On the other hand, the lactogenic

hormones prolactin and placental lactogen were shown to regulate BAT differentiation

such that neonatal mice lacking the prolactin receptor have smaller BAT depots, reduced

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expression of BAT-specific genes, and were more sensitive to cold exposure

(Viengchareun et al., 2008).

I.3.6 Role of JAK2-STAT signalling in the liver

I.3.6.1 Role of JAK2-STAT signalling in hepatic lipid homeostasis

In the liver, JAK2 is activated by several cytokines and growth factors including IFN-γ,

IL-4, IL-6, IL-13, GH and leptin (Gao, 2005). Mice with hepatocyte-specific deletion of

the entire leptin receptor did not exhibit any changes in body weight, body composition, or

blood glucose and insulin levels in the fed state (Cohen et al., 2001). Similarly, hepatocyte-

specific ablation of the leptin receptor signalling domain did not have an apparent effect

on energy balance or glucose metabolism in the basal state, but resulted in a small but

significant increase in hepatic triglyceride content (Huynh et al., 2010). Surprisingly, the

knockout mice were protected from diet- and age-induced glucose intolerance, partly due

to increased hepatic insulin sensitivity and enhanced glucose-stimulated insulin secretion

(Huynh et al., 2010). Mice with hepatocyte-specific deletion of the IL-6 receptor did not

have aberrant lipid accumulation in the liver but exhibited glucose intolerance and systemic

insulin resistance accompanied by increased hepatic and systemic inflammation

(Wunderlich et al., 2010). On the other hand, whole-body IL-6 deficiency leads to marked

steatosis, hepatic inflammation and systemic insulin resistance (Matthews et al., 2010),

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whereas IL-6 treatment for 10 days was shown to alleviate steatosis in leptin deficient

ob/ob mice, ethanol-fed or HFD-fed mice (Hong et al., 2004). Genetic deletion of STAT3

specifically in hepatocytes up-regulated hepatic expression of gluconeogenic and lipogenic

genes, leading to both hepatic and systemic insulin resistance and triglyceride

accumulation in the liver (Inoue et al., 2004). Similarly, another study using hepatocyte-

specific STAT3 knockout mice showed elevated hepatic expression of lipogenic genes

including SREBP-1c in ethanol-fed mutant mice, leading to aggravated hepatic steatosis

(Horiguchi et al., 2008). However, STAT3 deficiency in this model did not lead to altered

expression of gluconeogenic genes or baseline serum glucose and insulin levels (Horiguchi

et al., 2008).

Another JAK2-activating factor important in regulating hepatic lipid homeostasis is GH,

evidenced by the observation that untreated adults with GH deficiency frequently present

with NAFLD, and GH therapy in these individuals reduces hepatic lipid content

(Nishizawa et al., 2012). In line with this, both hepatic GHR- and STAT5-deficient mice

exhibited marked steatosis (Barclay et al., 2011; Cui et al., 2007; Fan et al., 2009; List et

al., 2014). In addition, mice with hepatic deletion of GHR, STAT5 and IGF-1 all developed

insulin resistance and glucose intolerance (Cui et al., 2007; Fan et al., 2009; Yakar et al.,

2004). Increased hepatic lipid accumulation in these models was proposed to be secondary

to elevated serum GH levels resulting from loss of feedback inhibition by IGF-1. Aberrant

GH levels stimulated peripheral adipose lipolysis, and the released FFA was taken up by

the liver. The critical mediator of hepatic lipid accumulation in models of disrupted hepatic

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GH signalling seems to be the scavenger receptor CD36 (also known as fatty acid

translocase). Indeed, Cd36 transcription can be regulated directly by STAT5 (Barclay et

al., 2011; Cheung et al., 2007), or indirectly by PPARγ, whose expression is repressed by

STAT5-mediated GH signalling (Chawla et al., 2001; Zhou and Waxman, 1999).

Recently, mice genetically deficient in JAK2 specificially in hepatocytes were shown to

develop spontaneous hepatic steatosis without impairment in whole-body insulin

sensitivity (Sos et al., 2011). The fatty liver phenotype was shown to be dependent on

excess GH signalling in peripheral tissues such that abolishment of aberrant GH secretion

by crossing the knockout mice with the GH-deficient little mice, which exhibit a point

mutation in the GH-releasing hormone receptor, completely normalized hepatic

triglyceride content (Sos et al., 2011). However, the role of JAK2 in the inflammatory

progression of NAFLD has not been fully elucidated.

I.3.6.2 Role of JAK2-STAT signalling in hepatic inflammation and NAFLD

progression

Consistent with the role of JAK2 in mediating inflammatory cytokine signalling, the JAK2

inhibitor AG490 has been shown to inhibit STAT1 and STAT3 phosphorylation, and

protect mouse livers from inflammation and apoptosis induced by ischemia and reperfusion

(Freitas et al., 2010). Furthermore, JAK2 expression and activity were shown to be

increased in fibrotic livers, especially in hepatic stellate cells (Granzow et al., 2014).

Pharmacological inhibition of JAK2 by AG490 attenuated liver fibrosis in mice, and this

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was proposed to be due to the cell-intrinsic role of JAK2 in hepatic stellate cells (Granzow

et al., 2014). However, AG490 can also inhibit other tyrosine kinases and is therefore not

specific for JAK2 (Levitzki, 1990), rendering it difficult to interpret the results.

Activation of various STAT proteins can act as either pro- or anti-inflammatory signals in

the liver. Hepatocyte STAT1 activation by IFNγ during viral hepatitis is a pro-apoptotic

and pro-inflammatory signal that induces hepatocyte death and liver damage. As such,

STAT1 null mice are resistant to concanavalin A or LPS plus D-galactosamine-induced

liver inflammation and injury (Hong et al., 2002). Conversely, STAT3 activation acts

mostly as a survival and anti-inflammatory signal and protects against liver damage (Wang

et al., 2011). However, in some settings, STAT3 can be pro-inflammatory. For example,

STAT3 deficiency was shown to protect against inflammatory damage induced by chronic

ethanol feeding in mice (Horiguchi et al., 2008). The underlying mechanisms are unclear

but may be related to STAT3-mediated induction of pro-inflammatory cytokines and

chemokines (Horiguchi et al., 2008). Consistent with a role of STAT5 in hepatoprotection,

mice with hepatocyte-specific STAT5 deletion were found to be more susceptible to

carbon tetrachloride-induced liver fibrosis and cancer as a result of elevated STAT3

activation and transforming growth factor beta (TGFβ) stabilization (Hosui et al., 2009).

These mice also developed severe liver fibrosis in a model of cholestatic liver disease due

to the down-regulation of hepatoprotective genes (Blaas et al., 2010).

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Chapter II: Thesis Objectives and Hypotheses

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Obesity and associated metabolic syndrome significantly increase the risk of

cardiovascular disease (Isomaa et al., 2001) and type 2 diabetes (Hanson et al., 2002).

Additionally, recent large-scale epidemiological studies have identified obesity as an

independent risk factor for cancer (Calle et al., 2003; Moller et al., 1994; Wolk et al., 2001).

One potential unifying mechanism underlying the pathophysiology of the metabolic

syndrome and associated complications is the chronic low-grade inflammatory response

associated with obesity. Thus, a better understanding of how inflammation contributes to

the pathogenesis of obesity-associated metabolic disorders will facilitate development of

better therapeutic strategies for metabolic syndrome and long-term complications.

The proper interaction and communication between cells during the inflammatory response

relies on a complex network of cytokines and their receptors. Pathways that mediate the

signal transduction of cytokines may therefore be important in the development of obesity

and related metabolic disorders. The JAK-STAT pathway is activated by a wide variety of

cytokines, hormones and growth factors, and mediates cytokine-mediated inflammatory

response. JAK2, an essential player in the JAK-STAT pathway, is ubiquitously expressed

and is activated by single chain hormone receptors, receptors that share the common β

chain, receptors that share the gp130 subunit, and some class II cytokine receptors

(Parganas et al., 1998). Evidence linking JAK2 to metabolic regulation is derived from

studies suggesting that JAK2 can regulate pathways downstream of insulin signalling

(Burfoot et al., 1997; Johnston et al., 1995), and that insulin can induce tyrosine

phosphorylation and activation of JAK2 in cells overexpressing the insulin receptor and in

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insulin-sensitive tissues of the rat (Gual et al., 1998; Saad et al., 1996). In addition,

associations between common polymorphisms in the JAK2 gene and risk factors of

metabolic syndrome have been reported in humans (Ge et al., 2008; Penas-Steinhardt et

al., 2011), suggesting that JAK2 may play a role in the regulation of metabolic homeostasis.

Disruption in adipocyte function is often thought to be one of the early driving forces in

the development of obesity-associated metabolic disturbances. In the adipose tissue, JAK2

mediates the signal transduction of numerous cytokines and hormones that regulate

adipocyte development and function. Several cytokines secreted by adipocytes also signal

through JAK2, illustrating its physiological importance in adipocyte biology. Recently,

adipocyte-specific deletion of JAK2 driven by the Adiponectin promoter has been shown

to result in reduced lipolysis and increased body fat (Nordstrom et al., 2013). However,

the molecular mechanisms underlying this phenotype and its metabolic consequences are

not clear.

The first objective of this thesis was to investigate the in vivo role of adipocyte JAK2 in

white adipocyte biology and fuel metabolism. The work described in Chapter IV of this

thesis examines the metabolic consequences of adipose JAK2 deficiency. We took an in

vivo genetic approach to disrupt Jak2 specifically in adipocytes using the Ap2 promoter-

driven Cre-loxP recombination system. We hypothesized that adipocyte JAK2 is involved

in the regulation of adipogenesis, lipogenesis and adipocyte function, and its deficiency

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will alter adipocyte biology, leading to disruption in whole-body energy balance and

glucose homeostasis.

The second objective of this thesis was to examine the role of adipose JAK2 in BAT

function and metabolic control. Using the adipocyte-specific JAK2 knockout mice we

generated in Chapter IV, we asked whether JAK2 plays a role in adaptive thermogenesis.

We hypothesized that JAK2 regulates UCP1 expression in BAT and its disruption will

impair the dynamic response of BAT to stress, leading to cold intolerance and diet-induced

obesity and diabetes.

In addition to the adipose tissue, obesity is also frequently associated with dysfunction of

other metabolic organs. In the liver, obesity-related insulin resistance promotes the

development of NAFLD and long-term complications including cirrhosis, liver failure and

hepatocellular carcinoma (Smith and Adams, 2011). Recent studies in the literature

implicate a critical role of the JAK2-STAT pathway in the regulation of hepatic lipid

metabolism such that disruption of JAK2-STAT signalling often leads to steatosis and

impaired glucose homeostasis. In particular, it was shown that deletion of JAK2 in

hepatocytes resulted in spontaneous steatosis (Sos et al., 2011). Nevertheless, the exact

role of JAK2 in the inflammatory progression of NAFLD has not been fully elucidated.

The final objective of this thesis was to investigate the metabolic and inflammatory role

of hepatic JAK2. To this end, in Chapter VI, we generated and characterized mice with

Jak2 deletion specifically in hepatocytes driven by the Albumin promoter. We also placed

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these mice on a high fat diet to examine the effects of JAK2 ablation in response to

metabolic stress. We hypothesized that JAK2 plays a critical role in hepatic lipid

metabolism and its deficiency will promote development of steatosis, leading to alteration

in whole-body metabolic homeostasis.

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Chapter III: Materials and Methods

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III. 1 Mouse protocol

All mice were housed in a pathogen-free facility at the Toronto Medical Discovery Tower

(Toronto, ON, Canada) with a 12-hr light-dark cycle and free access to water and standard

irradiated rodent chow (5% fat; Harlan Teklad, Indianapolis, IN, USA). All animal

experimental protocols were approved by the Toronto General Research Institute Animal

Care Committee.

Chapter IV - Adipocyte-specific Jak2 knockout mice were generated by breeding mice

with the Jak2 gene flanked by loxP sites (Jak2fl/fl) (Krempler et al., 2004; Wagner et al.,

2004) (kindly provided by Kay-Uwe Wagner, University of Nebraska Medical Center,

Omaha, NE, USA) with mice expressing Cre recombinase under the control of the Ap2

promoter (aP2Cre+; purchased from the Jackson Laboratory). The resulting

aP2Cre+Jak2+/fl mice were intercrossed to generate aP2Cre+Jak2+/+, aP2Cre+Jak2+/fl and

aP2Cre+Jak2fl/fl (herein referred to as A-JAK2 KO) mice. Genotyping for Cre and Jak2

was performed by polymerase chain reaction (PCR) using tail DNA as described in Section

III. 2 and III. 3. Mice were maintained on a mixed 129Sv and C57BL/6 background. Both

male and female mice were used.

Chapter V – A-JAK2 KO mice generated in Chapter IV were used and Ap2Cre+Jak2+/+

littermates served as controls. Starting at 8 weeks of age, a cohort of mice were fed a HFD

(60% fat, 24% carbohydrates and 16% protein based on caloric content; F3282; Bio-Serv,

Flemington, NJ, USA) for 8-10 weeks.

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Chapter VI – Mice with hepatocyte-specific JAK2 deficiency were generated by breeding

mice with the Jak2 gene flanked by loxP sites (Jak2fl/fl) (Krempler et al., 2004; Wagner et

al., 2004) to mice that harbored the Cre transgene under the control of the Albumin

promoter (AlbCre+; purchased from the Jackson Laboratory, Bar Harbor, ME, USA). The

resulting AlbCre+Jak2+/fl mice were intercrossed to generate AlbCre+Jak2flfl (L-JAK2 KO)

and AlbCre+Jak2+/+ (Control) mice. Mice used in this study were maintained on a mixed

C57BL/6 and 129Sv background. Both male and female mice were used. Some mice were

fed a HFD (60% fat, 24% carbohydrates and 16% protein based on caloric content; F3282;

Bio-Serv, Flemington, New Jersey, USA) for 8-10 weeks starting at 2 months of age.

III. 2 DNA extraction

Tail samples obtained from 10- to 14-day-old mice were digested at 55 °C overnight in

700 μL buffer (25 mM Tris pH 7.5, 50 mM EDTA, 1% SDS) plus 5 μL proteinase K (0.5

mg/mL; EMD Chemicals, Inc., Gibbstown, NJ, USA). Thereafter, 700 μL

phenol:chloroform:isoamyl alcohol (25:24:1) (USB Corporation, Cleveland, OH, USA)

was added to each digested sample. Samples were vortexed vigorously and centrifuged at

14,000 rpm for 5 min. The upper aqueous phase (~600 μL) was then transferred to a new

eppendorf tube and 900 μL of 100% ethanol was added to precipitate DNA. Samples were

washed once with 70% ethanol, air dried, and resuspended in 70 μL of autoclaved double

distilled water.

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III. 3 Polymerase chain reaction (PCR) genotyping

Genotyping of Cre was performed using the following primers: 5'-GGC AGT AAA AAC

TAT CCA GCA A-3' and 5'- GTT ATA AGC AAT CCC CAG AAA TG-3'. For the PCR

amplification protocol, the melting temperature was 95°C for 30 seconds, the annealing

temperature was 64°C for 30 seconds, and the primer extension phase was 72°C for 30

seconds, for 40 cycles. The final PCR product was 250 bp.

Genotyping of Jak2 was performed using the following primer sequences: 5’- ATT CTG

AGA TTC AGG TCT GAG C-3’ and 5’-CTC ACA ACC ATC TGT ATC TCA C-3’. For

the PCR programme, the melting temperature was 95°C for 30 seconds, the annealing

temperature was 57°C for 30 seconds, and the primer extension phase was 72°C for 45

seconds, for 38 cycles. The final PCR product was 230 bp for the wild-type allele and ~310

bp for the floxed allele.

All primers were synthesized by Eurofins MWG Operon (Huntsville, AL, USA). PCR

products were separated on 1% agarose gels, stained with 0.3 μg/mL ethidium bromide

and visualized by UV light.

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III. 4 In vivo metabolic studies

All overnight fasts were carried out between 5:00 PM and 9:00 AM. Glucose tolerance test

(GTT) was performed on overnight-fasted mice with i.p. glucose injection at a dose of 1

g/kg body weight. Insulin tolerance test (ITT) was performed on animals fasted for

overnight (for L-JAK2 KO mice) or 4 hr (for A-JAK2 KO mice) using human regular

insulin (Humulin R, Eli Lilly & Co, Indianapolis, IN, USA) at an i.p. injection dose of 1.5

U/kg (for L-JAK2 KO mice) or 1.0 U/kg (for A-JAK2 KO mice). For both GTT and ITT,

blood glucose levels were measured from the tail vein at 0, 15, 30, 45, 60 and 120 min after

injection using a glucometer (Contour, Bayer HealthCare, Mishawaka, IN, USA). Glucose

stimulated insulin secretion (GSIS) was performed on mice fasted overnight with an i.p.

glucose injection at a dose of 3 g/kg body weight. Blood was collected from the saphenous

vein (for L-JAK2 KO mice) or the tail vein (for A-JAK2 KO mice) at 0, 2, 10 and 30 min

after glucose injection and serum was prepared by centrifuging blood at 5,000 rpm for 10

min. Serum samples were assayed for insulin by a mouse insulin ELISA kit according to

the manufacturer’s protocol (Crystal Chem, Downers Grove, IL, USA). For insulin

signalling experiments, mice fasted overnight were injected i.p. with human regular insulin

(5 U/kg) or PBS. Tissues were harvested 10 min later, snap frozen in liquid nitrogen and

later processed for western blotting.

To measure energy expenditure, mice were individually housed in a Comprehensive

Laboratory Animal Monitoring System (Columbus Instruments, Columbus, OH, USA)

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with free access to food and water. After 24-hr acclimatization to the apparatus, data for

24 hr were collected. Energy expenditure was measured by volume of oxygen consumption

(VO2). Respiratory exchange ratio (RER) was calculated as the ratio between the volume

of carbon dioxide production (VCO2) to VO2. Physical activity was determined by infra-

red beam breaks. Food consumption and water intake were determined by weighing the

food and measuring the volume of drinking water, respectively, before and after the

measurement.

III. 5. Body temperature and cold exposure

Body temperature was measured in fed mice between 10:00 and 11:00 A.M. using a rectal

temperature probe. For the cold exposure experiment in Chapter V, mice were housed

individually and transferred to a cold room with an ambient temperature of 4 °C for 6 hours.

Body temperature was measured at indicated time points.

III. 6 Body composition by nuclear magnetic resonance spectroscopy

(Chapter IV)

Body composition of 5-month-old chow-fed male A-JAK2 KO mice and control

littermates was assessed by nuclear magnetic resonance spectroscopy at the Spatio-

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Temporal Targeting and Amplification of Radiation Response (STTARR) program in

Toronto Medical Discovery Tower (Toronto, ON, Canada). Images were acquired on a 7

Tesla Bruker Biospec 70/30 system (Bruker Corporation, Ettlingen, Germany), using the

B-GA12 gradient coil insert and 7.2 cm inner diameter cylindrical RF volume coil. Mice

were oriented in prone position on a dedicated murine slider bed, with isoflurane

administered at 1.8% to the nose cone. The SAII physiologic monitoring and gating

system provided a respiratory trace (SAII, Stonybrook, NY, USA). Magnetic resonance

images with bright fat signal were acquired using a respiratory-gated T2-weighted RARE

(Rapid Acceleration Relaxation Enhancement) pulse sequence, as a stack of 2D coronal

slices encompassing the volume of the mouse (echo time 30 ms; echo train length 8;

repetition time determined by respiratory interval, 360 × 160 matrix over 9 × 4 cm field-

of-view for 0.25 × 0.25 mm in-plane resolution, 22 slices, 1 mm slice thickness). Total fat

volumes were quantified using a combination of semi-automated and manual segmentation

tools in MIPAV software (Version 7.0.1; National Institute of Health, Bethesda, MD,

USA).

III. 7 Ex vivo lipolysis (Chapter IV)

Perigonadal fat pads were surgically removed from 6-month-old chow-fed A-JAK2 KO

mice and control littermates and kept in warm PBS. After drying on a piece of gauze, the

fat pads were cut into 50-mg pieces and incubated in 1 mL Krebs-Ringer bicarbonate buffer

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plus 5 mM HEPES containing 2% fatty acid-free BSA. After a preincubation period of 1

hr at 37 °C, isoproterenol (10 μM; Sigma, St. Louis, MO, USA), recombinant murine leptin

(0.1 and 1.0 nM; PeproTech, Rocky Hill, NJ, USA) or recombinant mouse GH (500 and

5000 μg/L; National Hormone and Peptide Program, Torrance, CA, USA) was added

directly to the incubation medium. After 2 hr of incubation, aliquots of the media were

saved and stored at -80 °C until analysis. Glycerol release into the medium was determined

using the Free Glycerol Reagent according to the manufacturer’s protocol (Sigma, St.

Louis, MO, USA).

III. 8 Hyperinsulinemic-euglycemic clamp (Chapter VI)

Hyperinsulinemic-euglycemic clamp was performed as previously described (Duez et al.,

2009) on 4-month-old chow-fed L-JAK2 KO mice and control littermates. Briefly,

following a 5-hr fast, [3-3H] glucose (Perkin-Elmer, Waltham, MA, USA) infusion (2.8 µ

Ci bolus, 0.052 µCi/min) was initiated for a 120-min equilibration period. During the last

30 min, three sequential blood samples were taken at 10-min interval for determination of

glucose-specific activity. At time 0, a continuous infusion of human insulin (Humulin R;

5mU/kg/min) was initiated. Blood glucose was measured every 10 min and a 30% glucose

solution was infused at a variable rate to maintain euglycemia. Steady state was achieved

when the glucose infusion rate to maintain blood glucose was constant for 30 min.

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III. 9 Analyses of serum parameters

Mice were anesthetized and blood was collected by cardiac puncture. Serum was prepared

by centrifuging blood at 5,000 rpm for 10 min. Serum alanine aminotransferase (ALT) and

aspartate aminotransferase (AST) levels in L-JAK2 KO mice were measured by IDEXX

Ltd. (Markham, ON, Canada). Serum insulin levels were measured by a mouse insulin

ELISA kit (Crystal Chem Inc.). Serum GH and IGF-1 levels were determined by

radioimmunoassay, and serum adiponectin, leptin, TNF-α and IL-6 levels by the Luminex

100 System (Luminex, Austin, TX, USA) at the Mouse Metabolic Phenotyping Centre

(Vanderbilt University, Nashville, TN, USA). In Chapter V, serum cytokine levels were

determined by the Milliplex mouse serum adipokine kit (Millipore, Billerica, MA, USA).

Serum total cholesterol, triglyceride, HDL-cholesterol and FFA were assayed at the Mouse

Metabolic Phenotyping Centre (Vanderbilt University). LDL and VLDL cholesterol levels

were calculated indirectly using the following formulas: VLDL = triglyceride/5, and LDL

= total cholesterol – HDL – triglyceride/5.

III. 10 Hepatic lipid content and FA composition (Chapter VI)

Total lipid from liver tissues was extracted with a 2:1 chloroform-methanol mixture. The

upper aqueous phase was removed and the combined solvent layer was allowed to

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evaporate. The dried lipids were resuspended in 100% ethanol, and total triglyceride and

cholesterol concentrations were determined using commercially available kits from

Randox according to the manufacturer’s instructions (Mississauga, ON, Canada). Fatty

acid composition of hepatic triglyceride was analyzed as previously described (Chen et al.,

2008). Briefly, total lipid was extracted from frozen livers by the Folch technique (Folch

et al., 1957) and separated by thin-layer chromatography. Fatty acids were hydrolyzed and

converted to fatty acid methyl esters using 14% boron trifluoride-methanol, then quantified

using a Varian-430 gas chromatograph (Varian, Lake Forest, CA, USA). The concentration

of each fatty acid at baseline was calculated via comparison to the internal control

heptadecanoic acid (17:0) made at known concentrations. For ceramide analysis, samples

were analyzed by Liquid Chromatography/Mass Spectrometry/Mass Spectrometry

(LC/MS/MS). Biological extracts were injected onto a reverse phase C18 HPLC Column

to separate and resolve the various sphingolipids that were eluted from the column and

analyzed on a triple quadruple mass spectrometer Sciex API 4000. Data acquisition was

performed in a targeted MRM (MS/MS) mode using sphingolipid specific precursor ion to

product ion (or parent to daughter ion) mass transitions. The resulting data were processed

using Applied Biosystems Analyst 1.4.2 software (AB Sciex, Framingham, MA, USA).

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III. 11 Histology, immunohistochemistry and immunofluorescence

Liver, pancreas and adipose tissue were harvested, fixed in 4% paraformaldehyde in 0.1 M

PBS (pH 7.4) and processed to paraffin blocks. Slides were cut in 7-m sections with 150

m separation on three levels. Adipose tissue sections were stained with hematoxylin and

eosin (H and E), and adipocyte size was measured using the cellSens software (Olympus,

Tokyo, Japan). Adipocyte number per fat pad was calculated from the ratio of total fat pad

volume to average adipocyte volume using the method developed by Lemonnier

(Lemonnier, 1972). Immunostaining for UCP1 was performed on BAT sections using a

rabbit anti-mouse UCP1 antibody (Abcam, Cambridge, UK). Immunohistochemistry was

performed on pancreatic sections using anti-insulin antibody (Dako, Carpinteria, CA,

USA). Scanned sections were analyzed with ImageScope version 11.0.2.716 software

(Aperio Technologies, Vista, CA, USA). Liver sections were stained with H and E and

Masson’s trichrome stain. Immunofluorescent staining in liver sections was performed

with anti-F4/80 antibody (Santa Cruz Biotechnology, Santa Cruz, CA, USA) and

visualized using a Zeiss inverted fluorescent microscope. For Oil-Red-O staining, liver

tissue was embedded in Tissue-Tek OCT compound (Sakura Finetek, Alphen aan den Rijn,

Netherlands) for frozen block preparation. Slides were cut in 10-μm sections with 150 m

separation on three levels. Sections were fixed in 4% paraformaldehyde in 0.1 M PBS (pH

7.4) and stained with Oil-Red-O for lipid detection.

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III. 12 RNA isolation and quantitative reverse transcription (RT)-PCR

Total RNA from liver tissue was isolated with the RNeasy Mini Kit according to the

manufacturer’s protocol (Qiagen, Germantown, MD, USA). Total RNA from adipose

tissue was isolated using the Trizol reagent (Invitrogen, Carlsbad, CA, USA). Briefly,

adipose tissue was homogenized in 1 mL Trizol and centrifuged at 12,000 g for 10 min at

4 °C. The clear homogenate was transferred to a new eppendorf tube, and 200 μL

chloroform was added. Samples were then shaken vigorously and centrifuged at 11,900 g

for 15 min at 4 °C. Thereafter, the upper aqueous phase was transferred to a new tube, and

500 μL isopropanol was added to precipitate the RNA. The RNA pellet was washed twice

with 75% ethanol, air dried, dissolved in diethylpyrocarbonate (DEPC)-treated water, and

treated with DNase I. 1 g of RNA was used as a template for first strand cDNA synthesis

with random primers using the Maloney murine leukemia virus (M-MLV) reverse

transcriptase enzyme (Invitrogen). Quantitative PCR was performed using specific primers

and SYBR Green master mix (Applied Biosystems, Carlsbad, CA, USA) on a 7900HT

Fast-Real Time PCR System (Applied Biosystems). The following PCR cycling

parameters were used: initial denaturation stage at 50°C for 120 seconds and at95°C for

600 seconds, amplification stage at 95°C for 15 seconds and 60°C for 60 seconds for 40

cycles, and the final dissociation stage at 95°C for 15 seconds and 60°C for 15 seconds. Each

sample was run in triplicate. The relative mRNA abundance of each gene was normalized

to the expression levels of the housekeeping gene 18S or Gapdh. Primer sequences are

listed in Table 1.

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Table 1: Primer sequences for quantitative RT-PCR

Gene Forward (5'-3') Reverse (5'-3')

18s AGTCCCTGCCCTTTGTACACA CGATCCGAGGGCCTCACTA

Acadm GCAGGAGCCCGGATTAGG CGGGCAGTTGCTTGAAACTC

Acads GGAGTTATCATGAGCGTCAACA CTGTGCGGATCCAAACTTCAG

Acadvl AGTGGCCCGGTTCTTT GTGTCGTCCTCCACCTTCTC

Acaca CTCCAGGACAGCACAGATCA TGACTGCCGAAACATCTCTG

Acox1 CAGGAAGAGCAAGGAAGTGG CCTTTCTGGCTGATCCCATA

Adipoq GGAACTTGTGCAGGTTGGAT GCTTCTCCAGGCTCTCCTTT

Apob GCCATGTCCAGGTACGAACT TGGTACGGTTCCCTTTCTTG

Cd36 GGAACTGTGGGCTCATTGC CATGAGAATGCCTCCAAACAC

Cebpa AAGAACAGCAACGAGTACCGG CATTGTCACTGGTCAGCTCCA

Cpt-1 GCAGAGCACGGCAAAATGA CTTTCGACCCGAGAAGACCTT

Emr1 CTTTGGCTATGGGCTCCAGTC GCAAGGAGGACAGAGTTTATCGTG

Fabp4 GACGACAGGAAGGTGAAGAG ACATTCCACCACCAGCTTGT

Fasn TGGGTTCTAGCCAGCAGAGT ACCACCAGAGACCGTTATGC

G6pc TCTGTCCCGGATCTACCTTG GTAGAATCCAAGCGCGAAAC

Hmgcr TGGAGATCATGTGCTGCTTC GCGACTATGAGCGTGAACAA

Ifng ACTGGCAAAAGGATGGTGAC GCTGATGGCCTGATTGTCTT

Igf1 GGCATTGTGGATGAGTGTTG TCTCCTTTGCAGCTTCGTTT

Il1b GCCCATCCTCTGTGACTCAT AGGCCACAGGTATTTTGTCG

Il6 CTCTGGGAAATCGTGGAAATG AAGTGCATCATCGTTGTTCATACA

Irs1 GGTGCTGCAGCTGATGAATA CGAGATCTCCGAGTCAGTCC

Lep TTCACACACGCAGTCGGTAT GCTGGTGAGGACCTGTTGAT

Lipe GCTGGAGGAGTGTTTTTTTGC AGTTGAACCAAGCAGGTCACA

Mttp CACTCAGGCAATTCGAGACA TCTGGCTGAGGTGGGAATAC

Pck1 GTGAGGAAGTTCGTGGAAGG TCTGCTCTTGGGTGATGATG

Pdk4 GAGGATTACTGACCGCCTCTTTAG TTCCGGGAATTGTCCATCAC

Pnpla2 TGTGGCCTCATTCCTCCTAC TCGTGGATGTTGGTGGAGCT

Ppara CAGGGTACCACTACCGAGTTCAC CCGAATAGTTCGCCGAAAGA

Pparg GCCCTTTGGTGACTTTATGG CAGCAGGTTGTCTTGGATGT

Ppargc1a ATGTGTCGCCTTCTTGCTCT CGGTGTCTGTAGTGGCTTGA

Prdm16 CAGCACGGTGAAGCCATTC GCGTGCATCCGCTTGTG

Scd1 GCGATACACTCTGGTGCTCA CCCAGGGAAACCAGGATATT

Slc2a4 TCATTGTCGGCATGGGTTT GGCAAATAGAAGGAAGACGTAAGG

Srebf1 GATCAAAGAGGAGCCAGTGC TAGATGGTGGCTGCTGAGTG

Socs3 GCCCCTTTGTAGACTTCACG GGAAACTTGCTGTGGGTGAC

Tnf GAACTGGCAGAAGAGGCACT AGGGTCTGGGCCATAGAACT

Ucp1 GTGAAGGTCAGAATGCAAGC AGGGCCCCCTTCATGAGGTC

Ucp2 TCCACGCAGCCTCTACAAT GACCTTTACCACATCTGTAGGC

Ucp3 CAGAGGGACTATGGATGCCTAC AGGTGAGACTCCAGCAACTTCT

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III. 13 Immunoblotting

Tissues were mechanically homogenized in ice-cold lysis buffer (50 mM Tris-HCl, pH7.5,

20 mM EDTA, 1% Triton X-100, 0.5 mM PMSF, 1 mM sodium orthovanadate, 10 μg/mL

leupeptin and 10 μg/mL aprotinin) and lysates were cleared by centrifugation at 14,000

rpm for 10 min. Protein concentration was determined by the Bradford method. Thereafter,

30-40 μg of protein was boiled in Laemmli sample buffer and resolved by sodium

dodecylsulfate-polyacrylamide gel electrophoresis (SDS-PAGE) with 10%

polyacrylamide gels. Proteins were then transferred onto polyvinylidene difluoride (PVDF)

membranes (GE Healthcare Bio-Sciences, Piscataway, NJ, USA), blocked with 5% BSA

in Tris-buffered saline with 0.1% Tween 20 (TBST) for 1 hr at room temperature and

incubated with primary antibodies at 4 °C overnight. The blots were then washed three

times with TBST and incubated with horseradish peroxidase-conjugated secondary

antibodies (Santa Cruz Biotechnology) at a dilution of 1:3000 for 1 hr at room temperature.

Thereafter, the blots were further washed three times with TBST and visualized by an

enhanced chemiluminescence system (GE Healthcare Bio-Sciences).

The following primary antibodies were used: UCP1 (Santa Cruz Biotechnology), phospho-

Akt (S473), total Akt, GAPDH, total JAK2, phospho-STAT3 (Y705), total STAT3,

phospho-STAT5 (Y694) and total STAT5 (Cell Signaling Technology, Danvers, MA,

USA). Protein band intensity was quantified by ImageJ software (National Institutes of

Health, Bethesda, MD, USA) and normalized to the respective control groups.

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III. 14 Statistical analysis

Data are presented as mean ± standard error of the mean (SEM). Values were analyzed by

two-tailed independent-sample Student’s t-test or one-way ANOVA, as appropriate, using

GraphPad Prism version 5 (GraphPad Software, La Jolla, CA, USA). p-values < 0.05 were

considered as statistically significant. *p< 0.05; **p< 0.01; ***p< 0.001.

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Chapter IV: Role of adipose JAK2 in white adipose tissue

biology and lipid metabolism

Sally Yu Shi, Cynthia T. Luk, Jara J. Brunt, Tharini Sivasubramaniyam, Shun-Yan Lu,

Stephanie A. Schroer, Minna Woo

Reproduced in part from Diabetologia. (2014) 57(5):1016-26, with kind permission from

Springer Science and Business Media

Contributions:

S.Y.S. designed experiments, generated and analyzed research data, and prepared the

manuscript. C.T.L. isolated RNA for quantitative RT-PCR analysis and performed GTT

and ITT experiments. J.J.B. performed insulin immunostaining and serum insulin analysis.

T.S. helped with genotyping and performed GTT and ITT experiments. S.-Y.L. isolated

RNA for quantitative RT-PCR analysis and helped with Western blot experiments. S.A.S.

helped with genotyping experiments. M.W. designed experiments, contributed to

discussion and interpretation of the data, and critically edited the manuscript.

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IV. 1 Introduction

Adipose tissue mass is maintained by the balance between lipid synthesis and catabolism.

Disruption in this equilibrium has been implicated in the pathophysiology of various

metabolic disorders, particularly obesity and type 2 diabetes (Guilherme et al., 2008; Kahn

and Flier, 2000; Sun et al., 2011). A better understanding of the regulatory mechanisms

governing adipocyte biology and homeostasis is therefore crucial, given the growing

worldwide epidemic of obesity (Swinburn et al., 2011).

The Janus kinase (JAK)–signal transducer and activator of transcription (STAT) pathway

mediates the signal transduction of numerous cytokines, growth factors and hormones that

regulate adipocyte development and function (Richard and Stephens, 2011). Several

cytokines secreted by adipocytes also use this signalling pathway, illustrating the

physiological importance of JAK–STATs in adipocyte biology. We and others have

recently shown that hepatocyte-specific deletion of JAK2, a ubiquitously expressed

member of the JAK kinase family, results in profound lipid accumulation in liver tissue,

suggesting a role for JAK2 in lipid metabolism (Shi et al., 2012; Sos et al., 2011). JAK2

is present in pre-adipocytes and mature adipocytes (Stewart et al., 1999), as well as in

adipose tissue (Hellgren et al., 2001). Its mRNA abundance has been shown to be

downregulated in human omental adipose tissue under obese conditions (Gomez-Ambrosi

et al., 2004), suggesting a potential role in the regulation of adipose tissue physiology.

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During adipogenesis, JAK2 is activated within 2 hrs of adipogenic induction and has been

shown to act upstream of STAT3 activation (Zhang et al., 2011). Inhibition of JAK2 with

a small-molecule inhibitor or small interfering RNA attenuated the differentiation of 3T3-

L1 adipocytes (Zhang et al., 2011). JAK2 has also been shown to be required for growth

hormone (GH)-dependent differentiation of pre-adipocytes via activation of STAT5

(Yarwood et al., 1999), a critical regulator of adipocyte development (Floyd and Stephens,

2003; Nanbu-Wakao et al., 2002; Shang and Waters, 2003).

In mature adipocytes, JAK2 can be activated by several cytokines and hormones, most

notably leptin, GH, prolactin, IL-6, LIF, OSM, ciliary neurotrophic factor (CNTF) and

IFN-γ. These cytokines and hormones regulate many aspects of adipose tissue biology. For

example, leptin (Siegrist-Kaiser et al., 1997), IL-6 (Trujillo et al., 2004; van Hall et al.,

2003), IFN-γ (Memon et al., 1992), GH (Goodman, 1968) and prolactin (Fielder and

Talamantes, 1987) have all been shown to exert lipolytic effects on isolated adipocytes and

adipose tissue. Furthermore, leptin, CNTF and LIF can inhibit fatty acid synthesis in white

adipose tissue either via a central mechanism (Buettner et al., 2008) or by inhibiting the

expression of lipogenic enzymes (Hogan and Stephens, 2005a; Zvonic et al., 2003). In

addition to regulating adipose expansion, CNTF enhances the expression of uncoupling

protein 1 induced by β3-adrenergic stimulation in brown adipose tissue (Ott et al., 2002).

OSM, a member of the IL-6 family of cytokines, suppresses adiponectin expression and

induces dedifferentiation of adipocytes (Song et al., 2007). Whether all these effects are

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mediated by JAK2 and to what extent JAK2 activation is required for them to occur has

not been established.

At the cellular level, JAK2 functions primarily by transducing signals from cytokines and

activating downstream STAT proteins. There is also evidence of STAT-independent

functions of JAK2 in adipocytes. It has been shown that fatty acid binding protein 4/AP2,

a highly-expressed lipid-binding protein in adipocytes, associated with the

unphosphorylated form of JAK2 and attenuated its signalling (Thompson et al., 2009).

Nevertheless, the cell-specific functions of adipocyte JAK2 are not well understood.

Recently, adipocyte-specific deletion of JAK2 driven by the Adiponectin promoter has

been shown to result in reduced lipolysis and increased body fat (Nordstrom et al., 2013).

The molecular mechanisms behind this and the metabolic consequences are not clear. We

sought to investigate the metabolic effects of adipose JAK2 deficiency. We found that mice

with impaired adipose JAK2 signalling driven by the Ap2 (also known as Fabp4) promoter

developed profound adiposity when on a regular chow diet, and that this was associated

with reduced energy expenditure. Thus, while glucose metabolism in young mice was

normal, these mice developed whole-body insulin resistance with aging.

IV. 2 Mouse Model and Experimental Design

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Whole-body JAK2 disruption leads to embryonic lethality due to defective erythropoiesis

(Parganas et al., 1998). To gain insight into the in vivo role of JAK2 in adipose tissue

biology, we took a conditional knockout approach to disrupt Jak2 specifically in adipocytes

using the Ap2 promoter-driven Cre-loxP recombination system. Specific deletion of Jak2

in adipocytes was confirmed by Western blotting in tissue lysates from A-JAK2 KO mice

and control littermates.

To examine the role of adipose JAK2 in body weight regulation, we kept A-JAK2 KO mice

and control littermates on a standard chow diet and weighed them monthly. Body

composition was determined by nuclear magnetic resonance spectroscopy at 5 months of

age. We also isolated and weighed major subcutaneous, visceral and brown fat pads at time

of sacrifice to examine whether adipose JAK2 deficiency leads to any changes in adiposity.

General morphology and size distribution of adipocytes were analyzed on H and E-stained

adipose sections. In order to assess the energy balance status in A-JAK2 KO mice, we

measured their rectal temperature and evaluated their food intake, energy expenditure and

physical activity by indirect calorimetry at 1 and 5 months of age.

To elucidate molecular changes resulting from JAK2 deficiency, we analyzed the

expression of genes involved in lipid and glucose metabolism in the perigonadal adipose

tissue by quantitative RT-PCR. Due to the well-known lipolytic effects of JAK2-activating

cytokines, we examined lipolysis ex vivo in perigonadal adipose tissue explants by

measuring glycerol release into the incubation medium in response to leptin and GH.

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Effects of adipose JAK2 disruption on adipocyte function were assessed by measuring

circulating levels of lipids including total triglycerides, total cholesterol, FFA and

cholesterol lipoproteins. mRNA and circulating levels of adipokines including leptin,

adiponectin, TNF-α and IL-6 were also determined.

In order to determine whole-body metabolic consequences of adipose JAK2 deficiency,

glucose homeostasis in A-JAK2 KO mice was assessed at 1 and 5 months of age by

measuring random and fasting blood glucose levels and fasting serum insulin levels, as

well as performing GTT, ITT and GSIS. Tissue-specific insulin sensitivity was evaluated

by measuring protein levels of phosphorylated Akt in the perigonadal adipose tissue, liver

and skeletal muscle after insulin stimulation.

IV. 3 Results

IV. 3-1 Disruption of adipocyte JAK2 increases body weight

A-JAK2 KO mice were viable and fertile with no gross abnormalities compared with

littermate controls. Quantitative RT-PCR and western blot analyses showed a significant

reduction of Jak2 mRNA and protein abundance in the inguinal, perigonadal and brown

adipose tissue (Figure IV-1A and B). JAK2 abundance in other tissues, including liver,

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skeletal muscle, brain and macrophages was not affected (Figure IV-1C). Selective

deficiency of JAK2 in adipose tissue did not affect circulating levels of GH (which requires

JAK2 for signal transduction) and its downstream target IGF-1 (Figure IV-1D and E).

To study the role of adipocyte JAK2 in body weight regulation, we followed A-JAK2 KO

mice and littermate controls on a standard chow diet and monitored their body weight

monthly. As shown in Figure IV-2A and B, starting from 3 months of age for males and 2

months of age for females, A-JAK2 KO mice progressively gained more body weight than

aP2Cre+Jak2+/+ and aP2Cre+Jak2+/fl littermate controls. This was particularly evident in

female mice (Figure IV-2C). Interestingly, heterozygous aP2Cre+Jak2+/fl mice exhibited a

similar growth curve to aP2Cre+Jak2+/+ mice, suggesting that gene dosage had no effect

on body weight. For subsequent analyses, we combined data from aP2Cre+Jak2+/+ and

aP2Cre+Jak2+/fl mice, collectively referring to them as controls. By 6 months of age, male

and female A-JAK2 KO mice weighed approximately 40.3% and 65.8% more than their

control littermates, respectively (Figure IV-2D and E). Body length was slightly greater

(Figure IV-2F and G), while BMI was significantly higher in A-JAK2 KO mice (Figure

IV-2H and I).

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Figure IV-1 Efficient and specific deletion of JAK2 in adipose tissue.

(A) mRNA expression of Jak2 in inguinal (Ing.), perigonadal (Peri.), and interscapular

brown adipose tissue (BAT) from aP2Cre+Jak2+/+ and A-JAK2 KO mice at 5 to 6 months

of age (n≥3). Values are expressed as fold changes relative to the aP2Cre+Jak2+/+ group.

(B) Lysates from visceral (VAT) and BAT were prepared and processed for

immunoblotting for JAK2. Protein band intensity was quantified by ImageJ software and

normalized to the aP2Cre+Jak2+/+ group (n=4-6). (C) Tissue lysates from 5 to 6-month-

old mice were prepared and processed for immunoblotting for JAK2. MΦ, macrophages.

(D-E) Serum levels of (D) GH and (E) IGF-1 from overnight fasted mice at 5 to 6 months

of age (n≥4). Results are mean ± SEM. *, p<0.05; and ***, p<0.001.

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Figure IV-2 Increased body weight in A-JAK2 KO mice.

(A-B) Growth curves of (A) male and (B) female aP2Cre+Jak2+/+, aP2Cre+Jak2+/- and

A-JAK2 KO mice (n≥8). (C) A representative photograph of female aP2Cre+Jak2+/+ and

A-JAK2 KO littermates at 6 months of age. (D-I) Body weight, body length measured from

snout to anus, and BMI at 5 to 6 months of age in (D, F, H) male (n≥10) and (E, G, I)

female (n≥7) control and A-JAK2 KO mice. Results are mean ± SEM. **, p<0.01; and ***,

p<0.001.

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IV. 3-2 Disruption of adipocyte JAK2 leads to increased adiposity

To determine the underlying basis for the increased body weight, we measured body

composition by nuclear magnetic resonance spectroscopy. Lean body mass was similar in

A-JAK2 KO mice and control littermates (Figure IV-3A and B). However, fat mass and

body fat content were significantly increased in A-JAK2 KO mice at 5 months of age

(Figure IV-3A to C). Similarly, when we isolated and weighed fat pads from mice at 5 to

6 months of age, all fat pads examined from A-JAK2 KO mice weighed more than those

examined from control littermates. The differences reached statistical significance for

absolute fat pad weight (Figure IV-3D and G) and per cent total body weight (Figure IV-

3E and H). Notably, greater differences between genotypes were observed in both sexes

for the inguinal depot compared with the perigonadal depot. On the other hand, the absolute

weight of other organs was comparable between the genotype groups, with the exception

of the liver, which weighed more in female A-JAK2 KO mice (Figure IV-3F and I).

Together, these results suggest that adipocyte JAK2 deficiency leads to higher body weight

due to increased adiposity.

H and E staining revealed the presence of enlarged adipocytes in inguinal, perigonadal and

interscapular brown adipose tissue in A-JAK2 KO mice (Figure IV-3J). Analysis of

adipocyte size, distribution and number suggested a threefold increase in the average size

of perigonadal adipocytes, with no change in adipocyte number (Figure IV-3K to M).

Similar changes were observed for adipocytes from the inguinal depot (data not shown).

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Figure IV-3 Increased adiposity in A-JAK2 KO mice.

(A-C) Body composition measured by nuclear magnetic resonance spectroscopy of male

mice at 5 months of age (n=5). (D-H) Weight of inguinal (Ing.), perigonadal (Peri.),

retroperitoneal (Retro.), mesenteric (Mes.) and BAT fat pads from 5 to 6-month-old male

(n≥11) and female (n≥10) mice. Results are expressed as (D and G) absolute fat pad weight

or (E and H) per cent total body weight. (H and I) Absolute weight of liver, pancreas,

spleen, heart and kidneys from 5 to 6-month-old male (n≥10) and female (n≥6) mice. (J)

Representative micrographs of H and E staining from 5 to 6-month-old female mice. Scale

bar, 40 µm. (K-M) Quantification of (K) adipocyte size distribution, (L) average adipocyte

size; and (M) cell number in perigonadal fat pads from tissue sections described in (J) (n=3).

Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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These results indicate that the adipose tissue expansion observed in A-JAK2 KO mice is

due to adipocyte hypertrophy, not to an increase in cell number.

IV. 3-3 A-JAK2 KO mice have normal energy metabolism at 1 month of age,

but display reduced energy expenditure as they age

To delineate the physiological mechanisms that would account for the apparent positive

energy balance in A-JAK2 KO mice, we measured their food intake and energy

expenditure by indirect calorimetry. At 1 month of age when A-JAK2 KO mice had a

similar body weight to control littermates, there were no significant differences in absolute

food or water intake, VO2, RER, physical activity or body temperature between the

genotype groups in both sexes (Figure IV-4A to L). These data suggest that adipose JAK2

deficiency had no direct effect on energy balance.

By 5 to 6 months of age, A-JAK2 KO mice still had normal absolute daily food and water

intake, suggesting no change in energy intake (Figure IV-5A to D). A-JAK2 KO mice were

also comparable to control littermates in terms of the energy source utilised, as indicated

by a similar RER (Figure IV-5E and F). On the other hand, VO2 was significantly lower in

A-JAK2 KO mice of both sexes (Figure IV-5G and H), consistent with their reduced

energy expenditure. This was associated with significantly reduced physical activity in

female A-JAK2 KO mice (Figure IV-5J). Male A-JAK2 KO mice also showed a non-

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Figure IV-4 No change in energy balance in A-JAK2 KO mice at 1 month of age.

(A-J) One-month-old male (n≥6) and female (n≥3) mice were housed individually in

metabolic chambers with free access to food and water and energy balance data were

collected for 24 hours. (A-D) Daily food intake and water intake were determined by

weighing the chow and measuring volume of drinking water, respectively, before and after

the measurement; (E and F) Oxygen consumption (VO2); (G and H) Respiratory exchange

ratio (RER), calculated as the ratio between volume of CO2 production and O2

consumption (VCO2/VO2); and (I and J) physical activity, expressed as average number of

infra-red beam breaks during one measurement interval. (K and L) Rectal temperature of

mice at 1 month of age (n≥3). Results are mean ± SEM.

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significant decrease in physical activity compared with control littermates (Figure IV-5I).

In contrast, body temperature was not altered by adipocyte JAK2 deficiency (Figure IV-

5K and L). Together, these results suggest that the progressive increase in body weight in

A-JAK2 KO mice may be due, at least in part, to decreased energy expenditure.

IV. 3-4 Adipose JAK2 deficiency leads to impaired lipolysis

To elucidate molecular changes in adipose tissue that could account for the observed

phenotype in A-JAK2 KO mice, we analysed the expression of genes involved in lipid and

glucose metabolism in perigonadal adipose tissue. At 1 month of age, gene expression was

not altered by JAK2 deficiency (Figure IV-6A and B). The genes studied included known

STAT target genes, e.g. Fabp4, fatty acid synthase (Fas, also known as Fasn), acyl-CoA

oxidase 1 (Acox1) and pyruvate dehydrogenase kinase (Pdk4). By 5 to 6 months of age,

genes implicated in lipid accumulation became differentially regulated. An overall

upregulation of genes implicated in adipogenesis was observed (Figure IV-6C). On the

other hand, enzymes regulating fatty acid synthesis showed decreased expression. mRNA

levels of hormone sensitive lipase (Lipe) were significantly increased, whereas expression

of adipose triglyceride lipase (Pnpla2) was reduced in A-JAK2 KO mice (Figure IV-6C).

In addition, the mRNA abundance of genes involved in β-oxidation was elevated,

suggesting a disruption in adipose lipid homeostasis. In contrast, the expression of genes

regulating glucose metabolism was not altered by JAK2 deficiency (Figure IV-6D).

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Figure IV-5 Reduced energy expenditure in A-JAK2 KO mice at 5 to 6 months of age.

(A-J) 5 to 6-month-old male (n=6) and female (n≥6) mice were housed individually in

metabolic chambers with free access to food and water and energy balance data were

collected for 24 hours. (A-D) Daily food intake and water intake were determined by

weighing the chow and measuring volume of drinking water, respectively, before and after

the measurement; (E and F) Respiratory exchange ratio (RER), calculated as VCO2/VO2;

(G and H) Oxygen consumption (VO2); and (I and J) physical activity, expressed as

average number of infra-red beam breaks during one measurement interval. (K and L)

Rectal temperature of mice at 5 to 6 months of age (n≥3). Results are mean ± SEM. *,

p<0.05; **, p<0.01; and ***, p<0.001.

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Figure IV-6 Dysregulated expression of lipid metabolism genes in white adipose tissue

from A-JAK2 KO mice.

(A and C) mRNA expression of genes involved in lipid metabolism in perigonadal adipose

tissue from (A) 1-month-old (n≥5); and (C) 5 to 6-month-old (n≥6) mice. Values are

expressed as fold changes relative to the control group. Cebpa, CCAAT/enhancer binding

protein, alpha; Srebf1, sterol regulatory element-binding protein 1c; Fabp4, fatty acid

binding protein 4; Pparg, peroxisome proliferator-activated receptor gamma; Acc, acetyl-

CoA carboxylase; Fas, fatty acid synthase; Lipe, hormone sensitive lipase; Pnpla2, adipose

triglyceride lipase; Cpt-1, carnitine palmitoyltransferase 1; Acox1, acyl-CoA oxidase 1,

palmitoyl. (B and D) mRNA abundance of genes implicated in glucose metabolism in

perigonadal adipose tissue from (B) 1-month-old (n≥5); and (D) 5 to 6-month-old (n≥6)

mice. Irs1, insulin receptor substrate 1; Slc2a4, solute carrier family 2 (facilitated glucose

transporter); Pdk4, pyruvate dehydrogenase kinase isozyme 4. Results are mean ± SEM. *,

p<0.05; **, p<0.01; and †, p=0.06.

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Next, given the well-known lipolytic effects of JAK2-activating cytokines and hormones,

we measured ex vivo lipolysis in adipose explants from 5- to 6-month-old mice. As shown

in Figure IV-7A, baseline glycerol release was not affected by adipose JAK2 deficiency.

On the other hand, while isoproterenol induced a robust lipolytic response in controls, this

effect was significantly attenuated in A-JAK2 KO mice. Furthermore, glycerol release in

response to leptin and GH was completely abolished in A-JAK2 KO adipose tissue,

indicating impaired lipolysis.

Consistent with disrupted lipid homeostasis in adipose tissue, A-JAK2 KO mice showed

higher FFA levels in the circulation at 5 to 6 months of age (Figure IV-7B), whereas levels

of triglyceride (Figure IV-7C), total cholesterol (Figure IV-7D) and cholesterol

lipoproteins (Figure IV-7E) were not changed. Finally, despite the presence of massive

adiposity and increased circulating FFA concentration, liver tissue from A-JAK2 KO mice

did not accumulate a significant amount of lipid, as shown by histological staining (Figure

IV-7F). Together, these results suggest that adipose JAK2 deficiency results in defective

lipolysis, leading to a disruption of whole-body lipid homeostasis.

IV. 3-5 A-JAK2 KO mice have disrupted adipokine secretion

To investigate the effects of JAK2 deficiency on adipose function, we also examined

expression patterns of adipokines. At 1 month of age, mRNA levels of leptin, adiponectin

and Tnfa (also known as Tnf) were similar, whereas expression of Il6 was downregulated

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Figure IV-7 Impaired lipolysis and disrupted lipid homeostasis in A-JAK2 KO mice.

(A) Glycerol release from perigonadal fat explants of 6-month-old mice stimulated with

isoproterenol, recombinant leptin or growth hormone. Results are from triplicate samples

repeated three times. (B-E) Serum levels of (B) FFA; (C) triglyceride; (D) total cholesterol;

and (E) cholesterol lipoproteins from overnight fasted mice at 5 to 6 months of age (n≥4).

(F) Representative micrographs of H and E staining of liver sections from 5 to 6-month-

old female mice. Scale bar, 80 µm. Results are mean ± SEM. *, p<0.05; **, p<0.01.

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in perigonadal adipose tissue from A-JAK2 KO mice (Figure IV-8A). As A-JAK2 KO

mice accumulated more adipose mass with age, their perigonadal adipose tissue

upregulated the mRNA transcription of leptin and Tnfa (Figure IV-8B). Consistent with

this, levels of these adipokines were also elevated in the circulation (Figure IV-8C and E).

In addition, while gene expression of adiponectin was not changed (Figure IV-8B),

circulating adiponectin levels were significantly reduced in A-JAK2 KO mice (Figure IV-

8D).

IV. 3-6 A-JAK2 KO mice show impaired insulin sensitivity as they age

To determine the metabolic consequences of adipocyte JAK2 disruption, we assessed

glucose metabolism in A-JAK2 KO mice. At 2 months of age, A-JAK2 KO mice displayed

no changes in random or fasting blood glucose levels (Figure IV-9A to D). Responses of

blood glucose to exogenous glucose and insulin administration were also similar in A-

JAK2 KO compared with control mice (Figure IV-9E to H). This normal glucose

metabolism was present despite the significant increase in adiposity in female A-JAK2 KO

mice.

By 5 to 6 months of age, male and female A-JAK2 KO mice maintained normal levels of

random and fasting blood glucose (Figure IV-10A to D). An i.p. GTT suggested the

presence of glucose intolerance, especially in female A-JAK2 KO mice (Figure IV-10E

and F). However, when we performed an OGTT using a fixed dose of glucose (50 mg) to

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Figure IV-8 Disrupted adipokine profile in A-JAK2 KO mice.

(A-B) mRNA expression of genes encoding adipokines in perigonadal adipose tissue from

(A) 1-month-old (n≥5); and (B) 5 to 6-month-old (n≥8) mice. Values are expressed as fold

changes relative to the control group. Lep, leptin; Adipoq, adiponection. (C-F) Serum levels

of adipokines from overnight fasted mice at 5 to 6 months of age (n≥4). Results are mean

± SEM. *, p<0.05; **, p<0.01; ***, p<0.001; and †, p=0.07.

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Figure IV-9 Normal glucose homeostasis in A-JAK2 KO mice at 2 months of age.

(A and B) Random blood glucose; (C and D) fasting blood glucose; (E and F) i.p. glucose

tolerance test (1 g/kg); and (G and H) i.p. insulin tolerance test (1.0 U/kg) at 2 months of

age in male (n≥6) and female (n≥5) mice. Results are mean ± SEM.

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eliminate the difference in dosing between genotype groups, glucose tolerance in A-JAK2

KO mice was comparable to that in control littermates (Figure IV-10G and H), suggesting

that A-JAK2 KO mice may be able to maintain glucose homeostasis at this age.

Nevertheless, while male A-JAK2 KO mice showed no significant change in insulin

sensitivity (Figure IV-11A and C), female A-JAK2 KO mice showed impaired insulin

sensitivity during an ITT (Figure IV-11B) and higher fasting serum insulin levels (Figure

IV-11D). Next, to assess organ-specific insulin sensitivity, female A-JAK2 KO mice and

control littermates were challenged with insulin, and tissues removed and processed for

analysis of insulin signalling by western blotting. As shown in Figure IV-11E, insulin-

stimulated Akt phosphorylation was significantly attenuated in perigonadal adipose tissue,

liver and skeletal muscle of A-JAK2 KO mice, suggesting the presence of whole-body

insulin resistance. This was associated with increased beta cell area, probably as a

compensatory response to increased insulin demand (Figure IV-11F and G). However,

glucose-stimulated insulin secretion was normal in A-JAK2 KO mice (Figure IV-11H). In

summary, selective JAK2 deficiency in adipocytes results in whole-body insulin resistance

in association with disrupted lipid homeostasis and adipokine secretion.

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Figure IV-10 Impaired glucose tolerance in A-JAK2 KO mice at 5 to 6 months of age.

(A and B) Random blood glucose; (C and D) fasting blood glucose; (E and F) i.p. glucose

tolerance test (1 g/kg); and (G and H) oral glucose tolerance test (50 mg) in male (n≥5) and

female (n≥5) mice at 5 to 6 months of age. Results are mean ± SEM. *, p<0.05; and **,

p<0.01.

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Figure IV-11 Whole-body insulin resistance in A-JAK2 KO mice at 5 to 6 months of

age.

(A and B) i.p. ITT (1.0 U/kg); and (C and D) fasting serum insulin levels in 5 to 6-month

old male and female mice (n≥5). (E) Tissue lysates were prepared from 6-month-old female

mice injected with insulin (5 U/kg) and immunoblotted for phospho-Akt (S473). Protein

band intensity was normalized to PBS-injected control group (n=3). (F) Representative

micrographs of pancreatic sections from 5 to 6-month-old female mice stained with anti-

insulin antibody (original magnification ×10). Arrowheads point to pancreatic islets. (G)

Quantification of β-cell area from pancreatic sections described in (F) (n=3). (H) Serum

insulin levels in response to an i.p. injection of glucose in mice at 5 months of age (n=6).

Results are mean ± SEM. *, p<0.05; and **, p<0.01.

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IV. 4 Summary

In this chapter, we investigated the role of JAK2, a key mediator of cytokine signalling, in

adipose tissue biology and whole-body metabolism. Using mice lacking Jak2 in adipocytes,

we show that JAK2 plays an essential role in maintaining adipose mass, such that its

deficiency resulted in extensive adipose tissue expansion even on a regular chow diet. This

was associated with reduced energy expenditure in A-JAK2 KO mice. In perigonadal

adipose tissue, the expression of numerous genes involved in lipid metabolism was

differentially regulated. In addition, adipose tissue from A-JAK2 KO mice displayed

impaired lipolysis in response to isoproterenol, growth hormone and leptin stimulation,

suggesting that adipose JAK2 directly modulates the lipolytic program. Impaired lipid

homeostasis was also associated with disrupted adipokine secretion. Accordingly, while

glucose metabolism was normal at 2 months of age, by 5 to 6 months of age, A-JAK2 KO

mice exhibited whole-body insulin resistance. Taken together, our results highlight the

critical role of adipocyte JAK2 in the regulation of adipocyte biology, energy homeostasis,

and whole-body metabolism.

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Chapter V: Role of adipose JAK2 in BAT function and

thermogenesis

Sally Yu Shi, Wei Zhang, Tharini Sivasubramaniyam, Jara J. Brunt, Stephanie A.

Schroer, Kay-Uwe Wagner and Minna Woo

Status: Under peer review in Diabetologia

Contributions:

S.Y.S. designed experiments, generated and analyzed research data, and prepared the

manuscript. W.Z. helped with Western blotting and quantitative RT-PCR experiments. T.S.

helped with GTT and ITT experiments and measured serum cytokine levels. J.J.B. helped

with quantitative RT-PCR experiments. S.A.S. helped with serum cytokine measurements

and mouse genotyping. K.-U.W. generated the Jak2fl/fl mice. M.W. designed experiments,

contributed to discussion and interpretation of the data, and critically edited the manuscript.

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V. 1 Introduction

The fast expanding obesity epidemic worldwide necessitates better understanding of its

underlying pathogenic mechanisms as well as development of novel treatment strategies.

Obesity is driven by an imbalance in caloric intake and energy expenditure, with the excess

nutrients stored as fat (Spiegelman and Flier, 2001). While adipose tissue is best known

for its function in energy storage, specialized adipocytes can promote energy expenditure

and suppress weight gain by way of non-shivering thermogenesis (Cannon and Nedergaard,

2004; Harms and Seale, 2013). Brown adipocytes, located in dedicated depots, express

constitutively high levels of uncoupling protein 1 (UCP1) that uncouples the electron

transport chain, leading to the generation of heat at the expense of ATP production

(Golozoubova et al., 2006). In contrast, inducible beige adipocytes, which also express

UCP1, develop in white adipose tissue in response to thermogenic activators (Vitali et al.,

2012). Studies in humans indicate that brown and beige adipocytes are a crucial player in

the regulation of energy expenditure. Importantly, their activity is inversely correlated with

the severity of the metabolic syndrome (Cypess et al., 2009; Saito et al., 2009; Virtanen et

al., 2009). Thus, strategies to enhance brown or beige adipocyte function represent an

appealing approach to combat obesity.

Thermogenesis in brown adipose tissue (BAT) is activated by excessive caloric intake or

following cold exposure to counteract energy surplus or to maintain body temperature,

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respectively (Ouellet et al., 2012; Rothwell and Stock, 1979). Cold- and diet-induced

thermogenesis is mediated by the sympathetic nervous system through stimulation of β3

adrenergic receptors on BAT to activate UCP1 activity and/or expression (Bachman et al.,

2002; Young et al., 1982). In addition, cold also activates beige adipocyte development

and function (Vitali et al., 2012). Better understanding of the molecular mechanisms

regulating this adaptive thermogenesis will facilitate development of brown or beige

adipocyte activators for the treatment of metabolic diseases.

The Janus kinase (JAK) – signal transducer and activator of transcription (STAT) pathway

is activated by a variety of cytokines, hormones and growth factors and plays an important

role in many cellular functions (O'Shea et al., 2002). Over the past few years, emerging

evidence has linked JAK-STAT signalling to brown and beige adipocyte biology (Derecka

et al., 2012; Moisan et al., 2015; Nguyen et al., 2011). Tyk2, one of the JAK family

members, was recently shown to regulate BAT differentiation by enhancing protein

stability of PR domain containing 16 (PRDM16), a master regulator of brown and beige

adipocyte differentiation (Derecka et al., 2012). STAT6, through stimulation by IL-4, is

essential for activation of alternative macrophages in BAT, which secrete catecholamines

to sustain cold-induced thermogenesis (Nguyen et al., 2011). Nevertheless, the direct role

of JAK2, a ubiquitously expressed JAK family member, has not been addressed.

JAK2 is activated in response to a number of cytokines and hormones that regulate brown

and beige adipocyte development and function such as growth hormone (GH) (Hioki et al.,

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2004; Li et al., 2003), prolactin (Viengchareun et al., 2008), leptin (Sarmiento et al., 1997;

Siegrist-Kaiser et al., 1997), IL-6 (Li et al., 2002; Wernstedt et al., 2006) and ciliary

neurotrophic factor (CNTF) (Ott et al., 2002). In this chapter, we investigated the role of

JAK2 in thermogenesis, particularly in response to metabolic and thermal stress. We show

that JAK2 is required for diet- and cold-induced thermogenesis and UCP1 expression in

BAT. Accordingly, A-JAK2 KO mice were unable to maintain body temperature in

response to cold exposure and had exacerbated obesity, insulin resistance and glucose

intolerance after a high fat diet (HFD).

V. 2 Mouse Model and Experimental Design

To gain insight into the molecular regulation of diet-induced thermogenesis, we employed

a widely used dietary obesity model where mice were fed a HFD for 8-10 weeks starting

at 2 months of age. Prolonged feeding of a HFD in which the majority of caloric intake is

from fat induces obesity, insulin resistance, glucose intolerance and hepatic steatosis (West

et al., 1992).

We first examined diet-induced thermogenesis in different adipose depots by comparing

mRNA expression of Ucp1 in wild-type mice after feeding with HFD for 8-10 weeks.

Regulation of adipose Jak2 expression in response to HFD was also assessed by

quantitative RT-PCR.

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Next, to investigate the causal relationship between JAK2 and regulation of UCP1

expression in response to energy excess, we used A-JAK2 KO mice generated in Chapter

IV and fed them a HFD for 8-10 weeks. To verify the extent of caloric excess with HFD

feeding, daily energy intake was estimated by measuring food consumption, and fuel

utilization was assessed by calculating RER using VO2 and VCO2 measured via indirect

calorimetry. Subsequently, expression levels of Ucp1 and Jak2 was measured in different

adipose depots in HFD-fed mice and their chow-fed counterparts. VO2 measured by

indirect calorimetry was used as a surrogate marker for energy expenditure to evaluate the

degree of diet-induced thermogenesis.

To further study the role of JAK2 in BAT function, we examined brown adipocyte

morphology by H and E staining in chow-fed A-JAK2 KO mice and control littermates at

1 and 5 months of age. In addition, expression of BAT-specific genes and genes involved

in brown adipocyte differentiation was measured by quantitative RT-PCR. UCP1 protein

abundance was also evaluated by immunohistochemical staining. Activation of the JAK-

STAT pathway in various adipose depots was assessed by phosphorylation of different

STAT proteins by Western blotting to explore potential molecular mechanisms by which

JAK2 regulates thermogenesis in fat.

Next, to delineate the consequence of changes in thermogenic capacity, we analyzed

energy balance in HFD-fed A-JAK2 KO mice and control littermates by indirect

calorimetry. Body weight was monitored monthly after the start of the HFD, and BMI was

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calculated. We also isolated and weighed major subcutaneous and visceral fat pads at time

of sacrifice to evaluate changes in adiposity. Adipocyte size distribution was analyzed on

H and E-stained adipose sections, and adipokine levels were measured in serum.

We then asked whether JAK2-mediated regulation of adaptive thermogenesis plays any

role in metabolic control. To this end, glucose homeostasis was assessed in HFD-fed A-

JAK2 KO mice and control littermates by measurement of random and fasting blood

glucose levels as well as performing GTT. Whole-body insulin sensitivity was evaluated

by measuring fasting serum insulin levels and conducting ITT experiments. Tissue-specific

insulin sensitivity was assessed by quantifying Akt phosphorylation in various metabolic

tissues after insulin stimulation by Western blotting.

We also studied the involvement of JAK2 in cold-induced thermogenesis by individually

housing HFD-fed A-JAK2 KO mice and control littermates at 4 °C and measuring their

rectal temperature hourly for 6 hours. Changes to Jak2 and Ucp1 mRNA expression in

response to cold stimulation was measured by quantitative RT-PCR in white and BAT.

V. 3 Results

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V. 3-1 Adipocyte JAK2 expression and diet-induced thermogenesis

To better understand the molecular mechanisms that regulate energy expenditure in the

adipose tissue, we first investigated the thermogenic program of different fat depots in

response to caloric excess. Feeding mice a HFD for 8-10 weeks increased daily energy

intake by approximately 20% (Figure V-1A). As expected, this disruption in energy

balance significantly up-regulated Ucp1 mRNA expression in BAT (Figure V-1B).

Furthermore, HFD also induced Ucp1 in white adipose tissue, particularly in the

subcutaneous depot (SAT) (Figure V-1B), which is abundant in beige adipocyte precursors

(Vitali et al., 2012). Of note, expression levels of Ucp1 in SAT and visceral adipose tissue

(VAT) were 2 to 3 orders of magnitude lower than in BAT. Consistent with UCP1 up-

regulation, HFD significantly elevated Prdm16 expression in BAT and SAT (Figure V-

1C), suggesting enhanced differentiation of brown and beige adipocytes.

We next examined JAK2 expression in different fat depots. Interestingly, Jak2 was more

abundantly expressed in BAT than white adipose tissue (Figure V-1D), implicating a role

in BAT biology. Of note, along with Ucp1 induction, we observed an increase in Jak2

mRNA abundance in all three fat depots examined in response to HFD (Figure V-1E).

Similar to Ucp1 and Prdm16, the extent of Jak2 induction was greater in BAT and SAT

than VAT. Taken together, these results suggest that JAK2 may play a role in diet-induced

thermogenesis.

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Figure V-1 Adipocyte JAK2 expression and diet-induced thermogenesis.

(A) Daily energy intake in wild-type mice fed a standard chow or HFD for 8-10 weeks

(n≥9). (B-C) mRNA expression of (B) Ucp1 and (C) Prdm16 in wild-type mice (n≥5).

Values were normalized to 18S mRNA levels. (D) mRNA expression of Jak2 in different

adipose depots (n≥3). Values were normalized to 18S mRNA levels. (E) mRNA expression

of Jak2 in wild-type mice (n≥5). Values are expressed as fold change relative to the

respective chow group. Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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V. 3-2 JAK2 is required for diet-induced UCP1 expression and thermogenesis

in BAT

To test whether energy excess-stimulated Ucp1 expression in adipose tissue is casually

related to Jak2 induction, we utilized mice with adipocyte-specific JAK2 deficiency (A-

JAK2 KO) we have generated previously (Shi et al., 2014) and fed them a HFD for 8-10

weeks. As shown in Figure V-2A, the increase in daily energy intake following HFD

feeding is similar in A-JAK2 KO mice and control littermates. In addition, A-JAK2 KO

mice exhibited a comparable reduction in their RER as control littermates (Figure V-2B),

indicating preferential lipid utilization upon high fat feeding. In BAT, HFD up-regulated

UCP1 expression only in control, but not A-JAK2 KO mice (Figure V-2C and D), whereas

in white adipose depots, HFD induced Ucp1 equally in A-JAK2 KO mice and control

littermates (Figure V-2C), suggesting that JAK2 is required for diet-induced UCP1

expression in BAT, but not in SAT or VAT. Expression pattern of Prdm16 was not

significantly affected by JAK2 deficiency (Figure V-2E). Accordingly, while control mice

increased their VO2 and thus, energy expenditure in response to HFD feeding, A-JAK2

KO mice did not (Figure V-2F), revealing an essential role of adipose JAK2 in diet-induced

thermogenesis.

Indeed, consistent with impaired BAT function and abnormalities in energy expenditure,

in Chapter IV of this thesis, we observed extensive adipose expansion and development of

progressive obesity in A-JAK2 KO mice even on a chow diet (Shi et al., 2014). H and E

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Figure V-2 JAK2 is required for diet-induced UCP1 expression and energy

expenditure in BAT.

(A) Daily energy intake (n≥5). (B) RER (n≥5). (C) mRNA expression of Ucp1 (n≥5).

Values are expressed as fold change relative to the respective chow control group. (D) BAT

lysates from chow and HFD-fed mice were prepared and immunoblotted for UCP1. Protein

band intensity was quantified by ImageJ software and normalized to actin (n=3). (E)

mRNA expression of Prdm16 (n≥5). Values are expressed as fold change relative to the

respective chow control group. (F) VO2 in chow and HFD-fed mice (n≥5). Results are

mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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staining of BAT sections indicated larger adipocytes with bigger fat droplets in one-month-

old A-JAK2 KO mice (Figure V-3A). This abnormality in brown adipocyte morphology

was more pronounced in older mice, with the appearance of large unilocular fat droplets

inside the fat cells (Figure V-3A). Consistent with impaired BAT function, chow-fed A-

JAK2 KO mice showed lower Ucp1 mRNA abundance in their BAT compared to control

littermates as early as 1 month of age (Figure V-3B). This correlated with reduced

expression of Ppargc1a, a transcriptional co-activator that co-ordinates expression of

UCP1 in response to adrenergic stimulation (Puigserver et al., 1998). However, mRNA

expression of Prdm16 was not affected. Similar trends were observed in older animals on

a chow diet (Figure V-3A and C).

To investigate the mechanism of impaired BAT function, we examined activation of the

JAK-STAT pathway in JAK2-deficient adipose tissue. Consistent with reduced JAK2-

mediated activation, STAT5 phosphorylation was significantly attenuated in both BAT and

white adipose tissue (Figure V-4). Levels of phospho-STAT3 were also reduced in BAT,

suggesting that JAK2 is required for STAT3 activation in brown adipocyte. In contrast,

STAT3 phosphorylation was significantly increased in SAT and VAT from A-JAK2 KO

mice, likely as a compensatory mechanism. Together, these data suggest that brown

adipocyte UCP1 expression and its STAT signaling are dependent on JAK2.

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Figure V-3 Impaired BAT function in A-JAK2 KO mice.

(A) Representative micrographs of H and E and UCP1 staining of BAT sections from

chow-fed mice. Scale bar, 20 μm. (B-C) mRNA expression of genes in BAT from chow-

fed mice at (B) one (n≥5) and (C) five (n=3) months of age. Values are expressed as fold

change relative to the control group. Results are mean ± SEM. *, p<0.05; and **, p<0.01.

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Figure V-4 Reduced STAT3 and 5 phosphorylation in BAT from A-JAK2 KO mice.

Adipose tissue lysates from HFD-fed mice were prepared and immunoblotted for JAK2,

p-STAT3 (Y705) and p-STAT5 (Y694). Protein band intensity was quantified by ImageJ

software and normalized to GAPDH, total STAT3 and total STAT5, respectively (n=3-5).

Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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V. 3-3 Increased weight gain in HFD-fed A-JAK2 KO mice

Accordingly, insufficient UCP1 induction upon HFD feeding resulted in lower energy

expenditure (Figure V-5A) with no significant difference in ambulatory activity (Figure V-

5B), leading to more body weight gain in A-JAK2 KO mice compared to control littermates

(Figure V-5C). After 2 months of HFD, A-JAK2 KO mice weighed approximately 40%

more than controls (Figure V-5C), with a higher BMI (Figure V-5D). Furthermore, analysis

of different fat depots indicated significant adipose tissue expansion in the SAT and VAT

depots (Figure V-5E and F), with an increase in adipocyte size (Figure V-5G to I).

Consistent with increased adiposity, A-JAK2 KO mice displayed significantly higher

leptin and resistin concentration in the circulation (Figure V-5J).

V. 3-4 A-JAK2 KO mice develop HFD-induced insulin resistance and glucose

intolerance

We next determined whether diet-induced obesity in A-JAK2 KO mice predisposed them

to metabolic defects. As shown in Figure V-6A and B, HFD-fed male A-JAK2 KO mice

had higher random blood glucose levels than control littermates. Furthermore, i.p. GTT

indicated presence of impaired glucose tolerance (Figure V-6C). Male A-JAK2 KO mice

also exhibited HFD-induced insulin resistance during an ITT compared to control

littermates (Figure V-6D). Similar trends were observed in HFD-fed female A-JAK2 KO

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Figure V-5 Development of diet-induced obesity in A-JAK2 KO mice.

(A) VO2; and (B) physical activity (n≥6). (C) Body weight of male (n≥9) and female (n≥5)

mice. (D) BMI measured 8-10 weeks after start of HFD. (E-F) Weight of inguinal (Ing.),

perigonadal (Peri.), retroperitoneal (Retro.), mesenteric (Mes.) and BAT fat pads (n≥8),

expressed as (E) absolute fat pad weight or (F) percent total body weight. (G)

Representative micrographs of H and E staining of perigonadal adipose sections. Scale bar,

50 μm. (H-I) Quantification of (H) adipocyte size distribution and (I) average adipocyte

size from sections as in (G) (n=3). (J) Serum adipokine levels from overnight-fasted mice

(n=7). Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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mice, although the degree of metabolic impairment was less (Figure V-6E to H). Next, to

specifically assess insulin sensitivity in individual metabolic tissues, HFD-fed A-JAK2 KO

mice and control littermates were injected with insulin, and tissues were processed for

analysis of insulin signalling by Western blotting. As shown in Figure V-6I, HFD-fed A-

JAK2 KO mice exhibited a reduction in insulin-stimulated Akt phosphorylation in VAT,

liver and skeletal muscle, indicating the presence of whole-body insulin resistance.

Consistent with this notion, fasting serum insulin levels were significantly higher in A-

JAK2 KO mice (Figure V-6J). Taken together, our results suggest that impaired BAT

function in A-JAK2 KO mice predisposes to HFD-induced obesity and associated

metabolic disturbances.

V. 3-5 JAK2 is required for cold-induced UCP1 expression and thermogenesis

in BAT

In addition to excess energy intake, cold exposure is another strong stimulator of non-

shivering thermogenesis (Morrison et al., 2012). Therefore, we asked whether JAK2 also

regulates UCP1 in response to cold challenge. In contrast to metabolic stress, acute thermal

stress up-regulated Jak2 expression only in BAT, but not in SAT or VAT from wild-type

mice (Figure V-7A). In parallel with Jak2 expression, short-term cold challenge induced a

modest elevation in Ucp1 mRNA levels in BAT, but not in SAT or VAT (Figure V-7B).

Importantly, BAT Ucp1 levels paradoxically declined upon cold exposure in the absence

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Figure V-6 HFD-induced insulin resistance and glucose intolerance in A-JAK2 KO

mice.

(A and E) Random blood glucose; (B and F) fasting blood glucose; (C and G) i.p. GTT (1

g/kg); and (D and H) i.p. ITT (1.0 U/kg) in HFD-fed male (n≥8) and female (n≥5) mice.

(I) Perigonadal adipose tissue, liver and skeletal muscle lysates were prepared from insulin-

stimulated (5 U/kg) HFD-fed mice and immunoblotted for phospho-Akt (S473). Protein

band intensity was quantified by ImageJ software and normalized to total Akt (n=3). (J)

Fasting serum insulin levels in HFD-fed mice (n≥5). Results are mean ± SEM. *, p<0.05;

and **, p<0.01.

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of JAK2, indicating an essential involvement of JAK2 in the maintenance of UCP1 with

lower ambient temperature. Interestingly, cold challenge significantly up-regulated Ucp1

mRNA levels in SAT and VAT from A-JAK2 KO mice (Figure V-7B), possibly as a

compensatory mechanism to maintain core body temperature. Nevertheless, this induction

did not adequately activate thermogenesis. As a result, A-JAK2 KO mice were unable to

maintain their body temperature after 3 hours of cold exposure compared to control

littermates (Figure V-7C). Together, these data indicate that adipocyte JAK2 is essential

for cold-induced UCP1 expression and thermogenesis.

V. 4 Summary

In summary, our work described in this chapter uncovers a critical role of JAK2 in brown

adipocyte biology and metabolic control. We show that JAK2 expression in murine brown

adipose tissue (BAT) is up-regulated along with uncoupling protein 1 (UCP1) in response

to high fat diet (HFD) feeding and cold exposure. This UCP1 induction and adaptive

thermogenesis is dependent on JAK2 and is completely abolished in A-JAK2 KO mice.

Accordingly, HFD-fed A-JAK2 KO mice showed attenuated energy expenditure, greater

adiposity and increased weight gain, with exacerbated whole-body insulin resistance and

glucose intolerance. Furthermore, A-JAK2 KO mice were unable to maintain body

temperature upon cold challenge. Taken together, our results suggest that JAK2 regulates

UCP1 in BAT and contributes to diet- and cold-induced thermogenesis.

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Figure V-7 Increased sensitivity to cold exposure in HFD-fed A-JAK2 KO mice.

HFD-fed mice were placed at 4 °C for 6 hours (n=3). (A) mRNA expression of Jak2 in

wild-type mice maintained at 20 °C and kept at 4 °C for 6 hours. Values are expressed as

fold change relative to the 20 °C group. (B) mRNA expression of Ucp1 from mice

maintained at 20 °C and mice kept at 4 °C for 6 hours. Values are expressed as fold change

relative to the 20 °C control group. (C) Body temperature measured at the indicated times.

Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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Chapter VI: Role of hepatic JAK2 in metabolism and

inflammation

Sally Yu Shi, Rubén García Martin, Robin E. Duncan, Diana Choi, Shun-Yan Lu,

Stephanie A. Schroer, Erica P. Cai, Cynthia T. Luk, Kathryn E. Hopperton, Anthony F.

Domenichiello, Christine Tang, Mark Naples, Mark J. Dekker, Adria Giacca, Khosrow

Adeli, Kay-Uwe Wagner, Richard P. Bazinet, and Minna Woo

This research was originally published in J. Biol. Chem. (2012) 287(13):10277-88. © the

American Society for Biochemistry and Molecular Biology.

Contributions:

S.Y.S. and R.G.M. designed experiments, generated and analyzed research data, and

prepared the manuscript. R.E.D. generated and analyzed research data, and prepared an

early version of the manuscript. D.C. helped with genotyping and performed GTT and ITT

experiments. S.-Y.L. helped with quantitative RT-PCR experiments. S.A.S. performed

F4/80 immunostaining and helped with GTT and ITT experiments. E.P.C. performed

insulin immunostaining and serum insulin analysis. C.T.L. helped with GTT and ITT

experiments. K.E.H. and A.F.D. analyzed hepatic and serum lipid levels. C.T. performed

euglycemic hyperinsulinemic clamp experiments. M.N. and M.J.D. analyzed cholesterol

and ceramide content. A.G., K.A., R.P.B. designed experiments and contributed to

discussion and interpretation of the data. K.-U.W. provided the Jak2fl/fl mice. M.W.

designed experiments, contributed to discussion and interpretation of the data, and

critically edited the manuscript.

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VI. 1 Introduction

Nonalcoholic fatty liver disease (NAFLD) is increasingly recognized as the leading cause

of chronic liver disease, affecting about 20% to 30% of the population in Western countries

(Angulo, 2002; Szczepaniak et al., 2005). Due to its strong link with insulin resistance and

type 2 diabetes, NAFLD is now considered to be the hepatic manifestation of the metabolic

syndrome (Marchesini et al., 2001). NAFLD comprises a spectrum, where steatosis alone

is largely benign but can progress to steatohepatitis characterized by inflammation and

fibrosis, followed by cirrhosis, liver failure and in some cases hepatocellular carcinoma

(Matteoni et al., 1999; Younossi et al., 1998). The exact pathogenesis of NAFLD, however,

is not well understood. Insulin resistance is known to play a critical role in lipid over-

accumulation in the liver. The resulting steatosis can in turn further impair insulin

signalling and sensitize the liver to inflammatory injury induced by a variety of stimuli

(Day and James, 1998). However, accumulating data now indicate that hepatic over-

storage of triglyceride per se is not a requirement for deterioration of insulin signalling and

progression of inflammation and may even be protective against lipotoxicity (Matsuzawa

et al., 2007; Monetti et al., 2007; Shiri-Sverdlov et al., 2006; Yamaguchi et al., 2007).

Nonetheless, the role of steatosis per se in the development of insulin resistance and

diabetes remains elusive.

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The Janus kinase-signal transducers and activators of transcription (JAK-STAT) pathway

is one of the major inflammatory pathways signalling downstream of cytokines. In the liver,

JAK2 is activated by several cytokines and growth factors including IFN-γ, IL-6, growth

hormone (GH) and leptin (Gao, 2005). Disruption of hepatic leptin signalling promoted

intrahepatic lipid accumulation but protected from diet- and age-induced glucose

intolerance (Huynh et al., 2010). On the other hand, hepatic STAT3 inactivation up-

regulated expression of gluconeogenic and lipogenic genes, leading to both hepatic and

systemic insulin resistance and triglyceride accumulation (Inoue et al., 2004). GH, which

signals through the GHR to activate the JAK2-STAT5 pathway, antagonizes insulin action

by raising blood glucose levels, reducing peripheral insulin sensitivity and stimulating

lipolysis of the adipose tissue (Vijayakumar et al., 2010). Mice with hepatic deletion of the

GHR, STAT5 and IGF-1 all developed insulin resistance and glucose intolerance (Cui et

al., 2007; Fan et al., 2009; Yakar et al., 2004). This phenotype was proposed to be

secondary to elevated serum GH levels resulting from loss of feedback inhibition by IGF-

1. In addition, both hepatic GH receptor- and STAT5-deficient mice exhibited marked

steatosis (Barclay et al., 2011; Cui et al., 2007; Fan et al., 2009). Recently, it was shown

that deletion of Jak2 in hepatocytes led to spontaneous steatosis, and this was dependent

on excess GH signalling such that abolishment of aberrant GH secretion completely

rescued the fatty liver phenotype (Sos et al., 2011).

In this chapter, we sought to invesigate the metabolic and inflammatory consequences of

hepatic Jak2 deletion in response to metabolic stress. To determine the role of hepatic

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JAK2 in diet-induced insulin resistance, we fed a cohort of L-JAK2 KO mice and their

littermate controls a high fat diet (HFD). HFD feeding for a prolonged period of time

induces a chronic inflammatory state that is thought to underlie the accompanying

metabolic abnormalities including insulin resistance and hepatocellular damage (Iyer et al.,

2010). Surprisingly, the profound hepatosteatosis seen in L-JAK2 KO mice did not

predispose to development of HFD-induced steatohepatitis; and despite impaired signal

transduction through Akt in the liver, improved insulin signalling in the adipose tissue and

protection against systemic insulin resistance were observed in L-JAK2 KO mice.

Moreover, L-JAK2 KO mice were completely protected against development of diet-

induced glucose intolerance. This metabolically beneficial profile may be accounted for,

at least in part, by compensatory β cell proliferation and enhanced glucose-stimulated

insulin secretion.

VI. 2 Mouse Model and Experimental Design

In order to elucidate the role of hepatic JAK2 in vivo, we generated hepatocyte-specific

JAK2 knockout (L-JAK2 KO) mice using the Cre-loxP system with the Albumin promoter

driving Cre transgene expression. Specific deletion of Jak2 in hepatocytes was confirmed

by Western blotting in tissue lysates from L-JAK2 KO mice and control littermates (Figure

VI-1).

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Figure VI-1 Attenuated JAK2 expression in the liver of L-JAK2 KO mice.

Tissue lysates were prepared from 6-month-old L-JAK2 KO mice and littermate controls

and resolved by LDS-PAGE. Lysates were immunoblotted with anti-JAK2 or anti-GAPDH

antibodies.

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To study the hepatic effects of JAK2 ablation, we harvested liver tissue from L-JAK2 KO

mice and littermate controls at various ages and recorded their weight relative to total body

weight. General liver morphology and architecture was assessed on H and E-stained

sections. Frozen liver sections were also stained with Oil-Red-O to visualize lipid

accumulation. Concentration of individual lipid species including triglycerides, cholesterol,

as well as triglyceride metabolites including DAG, ceramide and FFA were measured in

liver tissue from 1- and 6-month-old mice. In addition, individual fatty acid species of the

hepatic triglyceride pool were separated by thin layer chromatography and analyzed in

mice at 6 months of age.

Next, to gain insight into the role of JAK2 in response to metabolic stress, a cohort of L-

JAK2 KO mice and littermate controls were placed on a HFD for 8-10 weeks starting at 2

months of age. Inflammatory changes and hepatocellular damage were examined in H and

E stained-liver sections from HFD-fed mice. Hepatocellular function was assessed by

measuring serum levels of ALT, AST, total bilirubin and albumin. Infiltration of

macrophages were assessed by immunofluorescent staining of F4/80 in liver sections and

quantitative RT-PCR analysis of hepatic expression of Emr1. Hepatic and serum levels of

inflammatory cytokines including TNF-α, IL-6, IL-1β and IFN-γ were also measured.

Finally, to monitor the extent of fibrosis, liver sections were stained with Masson’s

trichrome, which stains collagen fibers blue.

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Changes to hepatic lipid content are often associated with alteration in insulin sensitivity

(Sanyal et al., 2001). Therefore, we measured the effects of hepatic JAK2 deletion on

hepatic and whole-body insulin sensitivity. Fasting serum insulin levels and ITTs were

assessed in both chow- and HFD-fed mice. Furthermore, we performed euglycemic

hyperinsulinemic clamps, the gold standard for assessing insulin sensitivity, in L-JAK2

KO mice and control littermates. Glucose infusion rate during the clamp was reflective of

whole-body insulin sensitivity. We also used radiolabelled glucose to calculate glucose

utilization and production in response to insulin as a measure of peripheral and hepatic

insulin sensitivity, respectively. In addition, insulin signal transduction in the liver and

peripheral tissues was evaluated by measuring phosphorylated Akt levels by Western

blotting. To study potential changes in hepatic gluconeogenesis, hepatic expression of key

gluconeogenic genes including Pck1 and G6pc were measured by quantitative RT-PCR.

Next, we examined the impact of hepatic JAK2 deletion on systemic glucose metabolism.

Fasting and random blood glucose, as well as GTTs were assessed in L-JAK2 KO mice

and littermate controls. Glucose-stimulated insulin secretion was performed in both chow-

and HFD-fed mice to delineate the underlying basis for changes in glucose tolerance. In

addition, pancreatic β-cell area was calculated based on immunohistochemical staining for

insulin in pancreatic sections.

JAK2 mediates the signal transduction of GH and is essential for GH action. We therefore

investigated the consequence of JAK2 disruption on hepatic GH signalling. This was

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achieved by measuring expression levels of key GH target genes including Igf1 and Socs3.

Activation of signalling pathways downstream of JAK2 including STAT3 and 5 was

assessed by Western blotting. We also measured circulating levels of GH and IGF-1 in L-

JAK2 KO mice and control littermates.

Given the pivotal role of GH and IGF-1 in regulating body growth and metabolism, we

assessed the effect of JAK2 disruption on growth and energy homeostasis. To this end,

body weight, length and BMI were monitored in L-JAK2 KO mice and control littermates

over time. Body composition, particularly the relative weight of the different adipose

depots, was also analyzed. To evaluate energy balance in L-JAK2 KO mice, we measured

their rectal temperature and assessed their food intake and energy expenditure by indirect

calorimetry.

VI. 3 Results

VI. 3-1 L-JAK2 KO mice develop progressive hepatic steatosis

L-JAK2 KO mice developed striking hepatic steatosis spontaneously on chow diet, which

was grossly visible by the pale and glistening appearance of the liver at 2-3 months of age

(Figure VI-2A). Their liver weight expressed as a percentage of total body weight was

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significantly higher than control littermates (Figure VI-2B). Using Oil-Red-O staining, we

observed intrahepatic lipid accumulation by as early as two weeks of age (Figure VI-2C).

Triglyceride was the predominant lipid species accounting for steatosis, which

progressively accumulated with age (Figure VI-2D). Analysis of the profile of fatty acids

esterified to triglycerides indicated elevated levels of all the long-chain saturated and

monounsaturated fatty acids in livers from L-JAK2 KO mice (Figure VI-2E). We next

analyzed for the presence of bioactive lipid metabolites implicated in insulin resistance.

Hepatic cholesterol levels were not significantly different between L-JAK2 KO mice and

control littermates (Figure VI-2F). Diacylglycerol (DAG) content was increased by about

50% in livers of L-JAK2 KO mice compared to control littermates at 6 months of age

(Figure VI-2G). Hepatic levels of ceramide, total FFA and free palmitate, however, were

similar between the two groups (Figure VI-2H to J).

We next investigated potential mechanisms underlying steatosis development in the setting

of hepatocyte JAK2 deficiency. Expression analysis of genes regulating hepatic lipid

metabolism showed no deficiency in lipoprotein synthesis, VLDL export or fatty acid β-

oxidation (Figure VI-3A and B). There was also no overt abnormality in de novo

lipogenesis (Figure VI-3C and D). On the other hand, there was a 4-fold elevation in

expression of fatty acid translocase (Cd36) in livers of L-JAK2 KO mice (Figure VI-3A),

indicating that the major contributor to lipid over-storage was increased uptake of

circulating FFA.

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Figure VI-2 Progressive hepatic steatosis in L-JAK2 KO mice.

(A) Representative photographs of liver lobes harvested from 12-week-old mice. (B) Liver

weight normalized to total body weight (n≥6). (C) Representative micrographs of Oil-Red-

O staining of liver sections from overnight-fasted mice. Scale bar: 200 m. (D) Hepatic

TG content. Results are normalized to tissue weight. (n=3-8) (E) Extracted TG from livers

of 6-month-old mice was converted to fatty acid methyl esters and fatty acid composition

was analysed with a gas chromatography system (n=3-4). AA: arachidonic acid; EPA:

eicosapentaenoic acid; DHA: docosahexaenoic acid. (F) Hepatic cholesterol content

normalized to tissue weight (n=3-6). (G) Hepatic DAG content at 1 (n=8) and 6 (n=4)

months of age. (H) Hepatic ceramide content at 1 month of age (n=7). (I) Hepatic total

FFA content at 1 (n=8) and 6 (n=4) months of age. (J) Hepatic free palmitate content at 1

month of age (n=5), normalized to tissue weight. Results are mean ± SEM. *, p<0.05; **,

p<0.01; and ***, p<0.001.

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Figure VI-3 Hepatic expression of genes involved in lipid metabolism.

(A-C) Quantitative RT-PCR analysis of mRNA expression in livers from 1-month-old

mice (n≥6). Values are expressed as fold change relative to the control group. (A) Genes

involved in lipid transport. Cd36, fatty acid translocase; Mttp, microsomal triglyceride

transfer protein; and Apob, apolipoprotein B. (B) Genes involved in fatty acid β-oxidation.

Ppara, peroxisome proliferator-activated receptor alpha; Acadm, medium chain acyl-CoA

dehydrogenase; Acads, small chain acyl-CoA dehydrogenase; Acadvl, very-long chain

acyl-CoA dehydrogenase; and Cpt-1, mitochondrial carnitine palmitoyl transferase 1. (C)

Genes involved in lipogenesis. Pparg, peroxisome proliferator-activated receptor gamma;

Srebf1, sterol regulatory element binding transcription factor 1c; Fas, fatty acid synthase;

Acc, acetyl-CoA carboxylase; Scd1, stearoyl-CoA desaturase; and Hmgcr, HMG

Coenzyme A reductase. (D) In vitro lipogenesis assay with 14C-acetate in livers from 1-

month-old mice (n=5). Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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VI. 3-2 L-JAK2 KO mice do not progress to steatohepatitis on a high fat diet

(HFD)

According to the “two-hit” model proposed by Day and James, steatosis sensitizes the liver

to inflammatory injury (Day and James, 1998). To examine whether the profound steatosis

seen in L-JAK2 KO mice predisposes to development of steatohepatitis, we fed the

knockout mice and their littermate controls a HFD for 8-10 weeks starting at 2 months of

age. As expected, control mice developed hepatic steatosis after prolonged HFD feeding,

and this was further exacerbated by abolishment of hepatic JAK2 signalling (Figure VI-

4A). Interestingly, histological analysis of liver sections using Masson’s trichrome stain

indicated that L-JAK2 KO mice did not exhibit increased inflammatory injury or

fibrogenesis (Figure VI-4B). This lack in progression of inflammation persisted up to 11

months of age in chow-fed L-JAK2 KO mice (Figure VI-4C). There was also no significant

increase in macrophage accumulation in livers of knockout mice as shown by

immunofluorescence staining and quantitative RT-PCR (Figure VI-4D and E). Serum

levels of ALT, reflective of the degree of hepatic steatosis, trended higher in chow-fed L-

JAK2 KO mice (Figure VI-4F). On the other hand, despite the profound steatosis,

circulating levels of AST, a hallmark of hepatocyte injury, was not elevated under both

chow- and HFD-fed conditions (Figure VI-4F). Circulating levels of total bilirubin and

albumin were similar (Figure VI-4G and H), suggesting that livers of L-JAK2 KO mice

were able to maintain their synthetic and secretory capacity. Furthermore, genes encoding

inflammatory cytokines including TNF-α, IL-1β and IFN-γ were not upregulated in HFD-

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fed L-JAK2 KO mice (Figure VI-4I). In fact, hepatic expression of an inflammatory

cytokine, IL-6, was significantly lower. We also measured circulating levels of TNF-α and

IL-6 and found no significant difference in levels of either cytokine between L-JAK2 KO

mice and littermate controls under either chow- or HFD-fed conditions (Figure VI-4J).

VI. 3-3 L-JAK2 KO mice display impaired hepatic insulin signalling but

normal systemic insulin sensitivity

Fatty liver is commonly associated with insulin resistance and type 2 diabetes; therefore,

we examined the impact of hepatocyte-specific Jak2 deletion on both hepatic and systemic

insulin signalling. Fasting serum insulin levels were not significantly different between the

two genotypes on either chow or HFD (Figure VI-5A), suggesting absence of whole-body

insulin resistance. Moreover, despite the profound hepatosteatosis in HFD-fed L-JAK2 KO

mice, they did not display whole body insulin resistance as evidenced by similar glucose

lowering by exogenous insulin during an i.p. ITT (Figure VI-5B). Next, to specifically

examine insulin sensitivity in individual metabolic tissues, L-JAK2 KO mice and littermate

controls were injected with insulin i.p. and tissues were harvested 10 minutes later for

analysis of insulin signalling by Western blotting. As shown in Figure VI-5C, Akt

phosphorylation was significantly attenuated in the livers of L-JAK2 KO mice following

insulin stimulation, whereas in adipose tissue (Figure VI-5C) and skeletal muscle (data not

shown) this attenuation in insulin response was not present compared to littermate controls.

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Figure VI-4 No progression to steatohepatitis on a HFD in L-JAK2 KO mice.

(A-B) Representative micrographs of (A) H and E, and (B) Masson’s trichrome staining of

liver sections from 4-month-old mice after 8-10 weeks on a standard chow or HFD

(original magnification ×25). (C) Representative micrographs of Masson’s trichrome

staining of liver sections from 11-month-old chow-fed mice (original magnification ×25).

(D) Immunofluorescent staining of macrophages (in red) in livers from 4-month-old chow-

fed mice using anti-F4/80 antibody (original magnification ×20). (E) mRNA expression of

hepatic Emr1 (n≥5). Values are expressed as fold change relative to the chow control group.

(F) Serum levels of ALT and AST (n≥5). Values are expressed as fold change over the

chow control group. (G-H) Serum levels of (G) total bilirubin, and (H) albumin (n≥3). (I)

Hepatic mRNA expression of genes encoding inflammatory markers (n≥8). Values are

expressed as fold change relative to the chow control group. Tnf, tumor necrosis factor

alpha; Il6, interleukin-6; Il1b, interleukin-1 beta; Ifng, interferon gamma. (J) Serum levels

of TNF-α and IL-6 (n≥5). Results are mean ± SEM. **, p<0.01; and †, p=0.06.

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Consistent with attenuated insulin signalling in the liver, hyperinsulinemic-euglycemic

clamp studies showed impaired suppression of endogenous glucose production by insulin

in L-JAK2 KO mice. On the other hand, insulin-induced whole-body glucose utilization

was comparable between the two genotypes, in accordance with absence of systemic

insulin resistance in L-JAK2 KO mice (Figure VI-5D). To assess for potential changes in

hepatic gluconeogenic program, we measured hepatic expression of key gluconeogenic

enzymes including PEPCK and G6Pase in overnight fasted mice and found no significant

difference between L-JAK2 KO mice and control littermates (Figure VI-5E).

VI. 3-4 L-JAK2 KO mice are protected from diet-induced glucose intolerance

In agreement with normal peripheral glucose disposal but dysregulated hepatic glucose

production, fasting (Figure VI-6A), but not random (Figure VI-6B) blood glucose was

consistently elevated in L-JAK2 KO mice compared to littermate controls. Surprisingly,

L-JAK2 KO mice were found to be more glucose tolerant than littermate controls on a

chow diet. This difference was more pronounced on a HFD such that L-JAK2 KO mice

were completely protected against HFD-induced glucose intolerance (Figure VI-6C). To

delineate potential mechanisms underlying the improved glucose tolerance, we measured

serum insulin levels in response to glucose stimulation. As shown in Figure VI-6D, no

significant difference existed between L-JAK2 KO mice and littermate controls on a chow

diet. On the other hand, HFD-fed L-JAK2 KO mice secreted more insulin in response to

glucose challenge. This was associated with a significantly increased β cell area in L-JAK2

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Figure VI-5 Attenuated hepatic insulin sensitivity but normal systemic insulin

sensitivity in L-JAK2 KO mice.

(A) Fasting serum insulin levels (n≥5). (B) i.p. ITT (1.5 U/kg) (n≥5). *, p<0.05 Control

Chow versus Control HFD; ##, p<0.01 Control HFD versus L-JAK2 KO HFD. (C) Liver

and SAT lysates were prepared from insulin-stimulated (5 U/kg) mice and immunoblotted

for phospho-Akt (S473). Protein band intensity was normalized to total Akt (n=3). (D)

Steady-state glucose infusion rate, suppression of hepatic glucose production and glucose

utilization measured during hyperinsulinemic-euglycemic clamps in 4-month-old chow-

fed mice (n=5). (E) mRNA expression of gluconeogenic genes in livers from overnight

fasted mice (n=7). Pck1, phosphoenolpyruvate carboxykinase; G6pc, glucose-6-

phosphatase. Results are mean ± SEM. *, p<0.05; and †, p=0.06.

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KO mice on a HFD (Figure VI-6E and F). Together, these data suggest that despite the

profound hepatosteatosis and dysregulated hepatic glucose production, L-JAK2 KO mice

exhibit improved glucose homeostasis, which may be accounted for, at least in part, by

increased insulin secretion from an enhanced β cell mass.

VI. 3-5 L-JAK2 KO mice exhibit impaired hepatic GH signalling

In the liver, binding of GH to its receptor activates JAK2, which phosphorylates STAT5A

and B, leading to transcriptional activation of a host of target genes including insulin-like

growth factor 1 (Igf1) and suppressor of cytokine signalling 3 (Socs3). Similar to the

findings by Sos et al. (Sos et al., 2011), L-JAK2 KO mice had lower serum IGF-1 levels

(Figure VI-7A) but higher serum GH levels (Figure VI-7B), likely as a result of a release

of feedback inhibition in the hypothalamus. In agreement with impaired hepatic GH

signalling, phosphorylation of STAT5 was moderately reduced in livers from L-JAK2 KO

mice (Figure VI-7C). As expected, expression levels of STAT5 target genes were also

decreased (Figure VI-7D). Interestingly, phosphorylation of STAT3, another signalling

partner of JAK2 that responds to cytokines such as leptin and IL-6, was increased (Figure

VI-7C). Together, these data demonstrate that JAK2 is an essential mediator of GH

signalling within the liver.

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Figure VI-6 L-JAK2 KO mice are protected from glucose intolerance.

(A) Fasting and (B) random blood glucose at 1 (n=17-21) and 6 (n=4-8) months of age. (C)

i.p. GTT (1 g/kg) (n≥8). *, p<0.05, ***, p<0.001 Control Chow versus L-JAK2 KO Chow;

#, p<0.05, ###, p<0.001 Control HFD versus L-JAK2 KO HFD; and †, p<0.05, ††, p<0.01,

†††, p<0.001 Control Chow versus Control HFD. (D) Serum insulin levels in response to

an i.p. injection of 3 g/kg glucose. Values are expressed as fold change over the control

group (n≥5). (E) Representative micrographs of pancreatic sections stained with anti-

insulin antibody (original magnification ×10). Arrowheads point to pancreatic islets. (F)

Quantification of β-cell area from pancreatic sections stained for insulin in (E), expressed

as per cent of total pancreatic area (n≥7). Results are mean ± SEM. *, p<0.05; **, p<0.01;

and ***, p<0.001.

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Figure VI-7 L-JAK2 KO mice exhibit impaired hepatic GH signaling.

(A-B) Serum levels of (A) IGF-1 and (B) GH measured at 1 and 4 months of age (n≥5).

(C) Liver lysates were prepared from 1-month-old mice and immunoblotted with anti-

phospho-STAT5 and phospho-STAT3 antibodies. Protein band intensity was quantified by

ImageJ software, and levels of p-STAT5 (n=3) and p-STAT3 (n=7) are normalized to total

STAT5 and STAT3, respectively. (D) mRNA expression of two STAT5-target genes,

Socs3 (n=3) and Igf1 (n≥6), in livers from L-JAK2 KO mice and littermate controls at 1

month of age. Values are expressed as fold change relative to control. Socs3, suppressor of

cytokine signalling 3; Igf1, insulin-like growth factor 1. Results are mean ± SEM. *, p<0.05;

**, p<0.01; and †, p=0.06.

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VI. 3-6 L-JAK2 KO mice display a reduction in adiposity and an increase in

energy expenditure

Given the pivotal role of GH in metabolism, we next investigated whether hepatic JAK2

deficiency affects energy homeostasis. L-JAK2 KO mice weighed significantly less and

were smaller in length compared to their control littermates by as early as one month of

age, with no appreciable differences in BMI (Figure VI-8A to C). In keeping with the

established effect of GH on lipolysis, L-JAK2 KO mice had decreased subcutaneous and

visceral fat depot mass, which was not apparent at 1 month of age but became statistically

significant at 6 months (Figure VI-8D). In line with absence of systemic insulin resistance,

circulating levels of total FFA as well as individual fatty acid species were not increased

in L-JAK2 KO mice despite the reduction in adipose tissue mass (Figure VI-8E and F).

Next, we assessed the impact of reduced fat mass on circulating levels of adipokines.

Serum adiponectin levels were not significantly different between control and knockout

mice (Figure VI-8G). On the other hand, L-JAK2 KO mice had higher circulating leptin

levels at 1 month of age (Figure VI-8H) when there was no change in adiposity. As the

mice aged, with diminishing fat depot mass, this difference in leptin levels was lost.

To assess energy balance in L-JAK2 KO mice, we placed them individually in metabolic

chambers. Compared to their littermate controls, L-JAK2 KO mice ingested more food

relative to their body weight on a chow diet (Figure VI-9A). Furthermore, L-JAK2 KO

mice exhibited a significantly greater RER, indicating the preferential oxidation of glucose

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Figure VI-8 L-JAK2 KO mice display a reduction in adiposity.

(A) Body weight, (B) body length measured from snout to anus, and (C) BMI at 1 (n=6-

16) and 6 (n=6-13) months of age. (D) Visceral (perigonadal depot), subcutaneous

(inguinal depot) and BAT fat pads were harvested from 1- and 6-month-old mice and

weighed (n=7-10). Results are expressed relative to total body weight. (E) Serum total FFA

at 4 months of age (n≥3). (F) Serum levels of individual fatty acid species (n=3). (G-H)

Serum levels of (G) adiponectin and (H) leptin from mice at 1 and 4 months of age (n≥5).

Results are mean ± SEM. *, p<0.05; **, p<0.01; and ***, p<0.001.

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as the fuel source (Figure VI-9B). Rates of O2 consumption and CO2 production were

higher in L-JAK2 KO mice, consistent with greater energy expenditure (Figure VI-9C and

D). This increase in energy expenditure was also observed in HFD-fed L-JAK2 KO mice

(data not shown). Locomotor activity was similar between the genotype groups (Figure VI-

9E), whereas L-JAK2 KO mice had a slightly but significantly elevated body temperature

(Figure VI-9F), indicating greater resting energy expenditure. Taken together, these results

suggest that increased energy expenditure may contribute to the improved metabolic

profile of L-JAK2 KO mice.

VI. 4 Summary

In summary, our study described in this chapter highlights the multiple roles of hepatic

JAK2 in the regulation of lipid and carbohydrate metabolism and inflammation. Mice

lacking JAK2 in hepatocytes presented with profound, spontaneous hepatic steatosis

associated with attenuated insulin-stimulated phosphorylation of Akt in the liver; however,

this overwhelming lipid accumulation did not progress to steatohepatitis or whole-body

insulin resistance on a HFD. In fact, the feedback increase in serum GH concentration as a

consequence of disrupted hepatic GH signalling likely induced the increase in resting

energy expenditure, contributing to the improved metabolic profile observed in chow-fed

L-JAK2 KO mice. Furthermore, both increased GH signalling and dampened hepatic

insulin signalling might mediate compensatory β cell proliferation in response to HFD

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Figure VI-9 L-JAK2 KO mice display an increase in energy expenditure.

(A-E) Chow-fed mice at 5-6 months of age were housed individually in metabolic

chambers with free access to food and water and energy balance data were collected for 24

hours (n=9). (A) Daily food intake was determined by weighing the chow before and after

the 24-hour measurement. Results are expressed relative to total body weight; (B)

Respiratory exchange ratio (RER), calculated as VCO2/ VO2; (C) Oxygen consumption

(VO2); (D) Carbon dioxide production (VCO2); and (E) Physical activity, expressed as

average number of infra-red beam breaks during one measurement interval. (F) Rectal

temperature of chow-fed mice at 5-6 months of age. Results are mean ± SEM. *, p<0.05;

and **, p<0.01.

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feeding, rendering L-JAK2 KO mice resistant to development of diet-induced glucose

intolerance (Figure VI-10). Taken together, our findings indicate a key role of hepatic

JAK2 in metabolism such that its absence arrests steatohepatitis development and confers

protection against diet-induced systemic insulin resistance and glucose intolerance.

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Figure VI-10 Proposed model of the mechanism for the observed phenotype in L-

JAK2 KO mice.

Deletion of JAK2 specifically in hepatocytes attenuates hepatic GH signaling, leading to

lipid over-accumulation in the liver as a result of increased uptake of circulating free fatty

acids. Impaired hepatic insulin signaling triggers compensatory β-cell proliferation in the

pancreatic islets, leading to increased β-cell mass. Elevated GH levels may also promote

compensatory β-cell proliferation in response to HFD, thereby protecting against HFD-

induced glucose intolerance. Furthermore, GH may stimulate resting energy expenditure,

leading to an improved metabolic profile compared to their control littermates. On the other

hand, as an essential mediator of inflammatory signaling, deletion of JAK2 arrests the

progression of steatosis to steatohepatitis.

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Chapter VII: Discussion and Future Perspectives

Reproduced in part from Diabetologia. 57(5):1016-26 with kind permission from

Springer Science and Business Media,

and J. Biol. Chem. 287(13):10277-88. © the American Society for Biochemistry and

Molecular Biology.

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VII. 1 The role of adipocyte JAK2 in white adipocyte biology and lipid

metabolism

In Chapter IV, we show that JAK2 plays an essential role in maintaining adipose mass such

that its deficiency resulted in extensive adipose tissue expansion even on a regular chow

diet. Notably, the phenotypic differences between A-JAK2 KO mice and control

littermates were more profound in females. The mechanisms underlying this sex-related

difference are not clear, but may reflect sexual dimorphic actions of JAK2-activating

cytokines or compensatory pathways activated in response to JAK2 deficiency in male

mice.

To disrupt JAK2 specifically in adipocytes, we used Ap2-Cre transgenic mice, a widely

used model to study the adipocyte-specific function of genes of interest (Bluher et al., 2002;

He et al., 2003). However, the Ap2 promoter/enhancer has been shown to drive transgene

expression during embryonic development (Urs et al., 2006). Therefore, we cannot rule

out a contribution of JAK2 deficiency in other tissues to the observed phenotype of A-

JAK2 KO mice. Nevertheless, our results are in agreement with a recent report

characterising mice with adipose-specific Jak2 deletion driven by the Adiponectin

promoter (Nordstrom et al., 2013). Similarly to our mice, male knockout mice in this model

had normal body weight, but significantly increased body fat at 8 to 10 weeks of age.

The marked adiposity observed with adipocyte JAK2 deficiency is consistent with previous

studies in which various components of the JAK2–STAT pathway were disrupted in

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adipocytes. In particular, disruption of the GH receptor (GHR) (List et al., 2013) and

STAT3 (Cernkovich et al., 2008) using the Ap2 promoter, and knockdown of the leptin

receptor using antisense RNA (Huan et al., 2003) all resulted in increased body weight and

adiposity. Of all the models, A-JAK2 KO mice had the most striking increase in body

weight. This is probably due to the combined disruption of signalling from multiple

cytokines as a consequence of JAK2 deficiency. Interestingly, the perigonadal fat depot

had the smallest increase in mass, especially in male A-JAK2 KO mice. This is in line with

observations in adipocyte-specific Ghr knockout mice (List et al., 2013) and may be due

to different responses of various fat depots to the action of GH (List et al., 2009).

Previous studies in vitro have suggested a critical role of JAK2 in adipogenesis (Yarwood

et al., 1999; Zhang et al., 2011). Although direct in vivo evidence is lacking for JAK2,

studies in different mouse models support the importance of its downstream protein,

STAT5, in adipocyte differentiation (Stewart et al., 2011; Teglund et al., 1998). Therefore,

JAK2 deficiency may have an impact on adipocyte development in our model. However,

A-JAK2 KO mice probably did not have impaired adipogenesis because they maintained

a similar number of adipocytes compared with control littermates. This lack of an effect

on adipogenesis may be due to the late deletion of JAK2 induced by the Ap2 promoter, as

AP2 is commonly regarded as a marker of terminal adipocyte differentiation (Hunt et al.,

1986).

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With no change in adipogenesis and no direct effect on energy balance, adipocyte-specific

JAK2 deficiency might alter body composition by modulating lipid turnover in the adipose

tissue. Indeed, a number of JAK2-activating cytokines and hormones including leptin

(Siegrist-Kaiser et al., 1997), IL-6 (Trujillo et al., 2004; van Hall et al., 2003), IFN-γ

(Memon et al., 1992), GH (Goodman, 1968) and prolactin (Fielder and Talamantes, 1987)

have well-documented lipolytic effects. In agreement with this, Adiponectin promoter-

driven JAK2 deletion resulted in impaired lipolysis in white adipose tissue (Nordstrom et

al., 2013). In this work, we further showed that adipocyte JAK2 is required for leptin- and

GH-stimulated lipolysis. Our results are consistent with previous work showing defective

leptin- and GH-stimulated lipolysis in adipocytes from mice lacking STAT3, and STAT5A

and STAT5B, respectively (Cernkovich et al., 2008; Fain et al., 1999). However, in

contrast to these models, adipose JAK2 deficiency also significantly attenuated

catecholamine-induced lipolysis, albeit to a lesser degree, indicating that adipose JAK2

directly modulates the lipolytic program. Together, our results demonstrate that JAK2 in

adipocytes is required for body weight homeostasis and prevents excessive lipid

accumulation in adipose tissue.

VII. 2 The role of adipocyte JAK2 in BAT function and thermogenesis

In Chapter V, we show JAK2 expression in BAT is necessary for UCP1 induction in

response to excess caloric intake and cold challenge. Consequently, mice with adipose-

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specific JAK2 disruption were not able to activate thermogenesis in response to energy

surplus and cold exposure. Our observation that JAK2 expression is regulated by diet

points to the possibility of pharmacological or dietary interventions to improve BAT

function to treat obesity. While HFD concomitantly induced JAK2 and UCP1 expression

in all three fat depots examined, only BAT JAK2 appears to be essential for UCP1

induction, whereas white adipose tissue up-regulates their UCP1 via a JAK2-independent

mechanism. This notion is further supported by results from the cold exposure experiment,

where A-JAK2 KO mice placed at 4 °C for 6 hours were unable to up-regulate UCP1 in

BAT but significantly increased Ucp1 transcription in SAT and VAT.

Our results suggest that JAK2 plays an important role in regulating UCP1 expression in

BAT, as A-JAK2 KO mice exhibit reduced UCP1 levels by as early as one month of age.

Indeed, A-JAK2 KO mice were phenotypically similar to UCP1-/- mice, which are cold

sensitive (Enerback et al., 1997) and, when maintained at thermoneutrality, develop

spontaneous obesity and show abolished diet-induced thermogenesis (Feldmann et al.,

2009). Of note, A-JAK2 KO mice were obese even when maintained at room temperature.

This difference compared to UCP1-/- mice is likely attributable to suppression of lipolysis

in the white adipose tissue as a result of JAK2 deficiency, as we and others have shown

previously (Nordstrom et al., 2013; Shi et al., 2014).

Several hormones and growth factors could account for the effects of adipose JAK2 on

BAT function. Ciliary neurotrophic factor (CNTF), first characterized as a growth and

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survival factor for neurons, activates JAK2 and has been shown to potentiate induction of

UCP1 in BAT by β3 adrenergic agonists (Ott et al., 2002). Similarly, peripheral

intravenous administration of leptin in mice increased mRNA expression of thermogenic

genes (Commins et al., 1999; Sarmiento et al., 1997) and glucose utilization of BAT

(Siegrist-Kaiser et al., 1997). Furthermore, treatment with human GH for 10 days up-

regulated UCP1 mRNA levels in BAT from KK-Ay obese mice (Hioki et al., 2004).

Therefore, the observed reduction in UCP1 expression in JAK2 deficient BAT could be

due to the concerted action of all these hormones.

In addition to regulating mature brown adipocytes, JAK2-activating cytokines have also

been shown to play a role in BAT development. For example, the lactogenic hormones

prolactin and placental lactogen were shown to be essential for BAT differentiation such

that neonatal mice lacking the prolactin receptor have smaller BAT depots, reduced

expression of BAT-specific genes, and were more sensitive to cold exposure

(Viengchareun et al., 2008). Nevertheless, whether JAK2 also contributes to BAT

differentiation is less clear. In our animal model, the late deletion of Jak2 using the Ap2

promoter precludes definitive conclusion about the role of JAK2 in brown adipocyte

development, as AP2 is only expressed upon adipocyte differentiation (Hunt et al., 1986).

Interestingly, expression of Prdm16 was not affected by JAK2 disruption under either

chow or HFD conditions, suggesting that JAK2 likely does not play a critical role in BAT

differentiation.

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Actions of JAK2-activating cytokines are mediated mostly by STAT3 and STAT5 in

metabolic tissues. In line with a disruption of upstream signal transduction,

phosphorylation of both STAT3 and STAT5 is significantly attenuated in JAK2-deficient

BAT. While the exact role of STAT5 in BAT remains to be elucidated, STAT3 has recently

been implicated in BAT differentiation by binding to and enhancing protein stability of

PRDM16 (Derecka et al., 2012). Interestingly, in tissue-specific models of JAK2

disruption, STAT3 phosphorylation is frequently up-regulated (Shi et al., 2012), likely by

other protein tyrosine kinases such as members of the Src family (Turkson et al., 1998).

Indeed, we observed higher levels of phospho-STAT3 in white adipose depots from A-

JAK2 KO mice compared to control littermates. On the other hand, STAT3

phosphorylation was significantly attenuated in JAK2-deficient BAT, suggesting that

JAK2 is necessary for STAT3 activation in this tissue.

In addition to the canonical signalling pathway, some reports indicate that the JAK-STAT

pathway can be activated by G protein coupled receptors such as the angiotensin II type 1

receptor (Marrero et al., 1995), and the chemokine receptor CCR2 (Mellado et al., 1998)

and CXCR4 (Vila-Coro et al., 1999). Therefore, it is possible that the β3 adrenergic

receptor transduces signals through the JAK-STAT pathway, and the observed phenotype

in A-JAK2 KO mice results from impaired adrenergic signal transduction in the BAT.

Indeed, findings from this and our previous work (Shi et al., 2014) indicate that actions of

adipose JAK2 mimic those of the sympathetic nervous system, with activation of lipolysis

in white adipose tissue and adaptive thermogenesis in BAT (Collins and Surwit, 2001).

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Nevertheless, whether crosstalk between the adrenergic receptor and JAK2 exists and, if it

does, to what extent it contributes to sympathetic activation of adaptive thermogenesis

warrants further investigation.

VII. 3 The role of adipocyte JAK2 in whole-body metabolic regulation

In Chapters IV and V, we show that the increased adiposity in A-JAK2 KO mice led to

insulin resistance and glucose intolerance with age or extended HFD feeding. We postulate

that whole-body metabolic changes later in life or in response to a HFD in A-JAK2 KO

mice are likely to be secondary to increased adiposity and the ensuing insulin resistance,

as A-JAK2 KO mice were metabolically normal at a younger age despite profound obesity.

Specifically, with blunted insulin action, insulin-stimulated expression of lipogenic genes

including acetyl-CoA carboxylase (Acc, also known as Acaca) and Fas would be

diminished (Girard et al., 1994). The inhibition of lipolysis via suppression of Lipe would

also be attenuated (Saltiel and Kahn, 2001).

In line with insulin resistance resulting from disrupted adipose tissue homeostasis, we

observed higher circulating levels of leptin and TNF-α, and lower levels of adiponectin,

which could all contribute to the metabolic disturbances in older A-JAK2 KO mice. While

histological analysis of the liver did not suggest excessive lipid deposition, it is possible

that with age and more severe insulin resistance, fatty liver may eventually develop in A-

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JAK2 KO mice. Importantly, our knockout animals were phenotypically distinct in terms

of whole-body metabolism compared with other models of disrupted JAK–STAT

signalling. The disruption of GHR in adipocytes did not affect glucose homeostasis or

hepatic lipid content up to 20 weeks of age (List et al., 2013), whereas mice with

diminished adipose leptin signalling displayed glucose intolerance by as early as 6 to 7

weeks of age, and liver steatosis by 19 to 20 weeks (Huan et al., 2003). In contrast, although

glucose homeostasis was relatively normal in mice with adipose-specific STAT3

deficiency, fatty liver was present by 20 weeks of age (Cernkovich et al., 2008). These

differences in whole-body metabolism are present despite the same primary defect in body

weight homeostasis, demonstrating the complexity of metabolic regulation and the diverse

functions of the JAK–STAT pathway in adipose physiology and metabolism.

VII. 4 The role of hepatocyte JAK2 in hepatic lipid metabolism

In Chapter V, we investigated the role of JAK2, a key mediator of cytokine signalling, in

hepatic lipid metabolism and NAFLD development. We show that mice lacking JAK2 in

hepatocytes developed profound fatty liver spontaneously. This inhibitory role of hepatic

JAK2 on lipid accumulation is in line with previous reports. For example, hepatocyte-

specific deletion of the leptin receptor, GHR, STAT3 and STAT5 all resulted in varying

degrees of lipid deposition in the liver (Barclay et al., 2011; Cui et al., 2007; Fan et al.,

2009; Huynh et al., 2010; Inoue et al., 2004). By far the most profound steatosis among all

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these mouse models is observed with deletion of hepatic Jak2. Nevertheless, despite the

steatosis, L-JAK2 KO mice did not progress to steatohepatitis on a HFD. A recent study

by Sos et al. also examined the role of JAK2 in hepatic lipid metabolism. Using the same

Cre-mediated recombination driven by the albumin promoter, the investigators

demonstrated that deletion of Jak2 in hepatocytes led to spontaneous steatosis, and this

was dependent on excess GH signalling in peripheral tissues such that abolishment of

aberrant GH secretion completely rescued the fatty liver phenotype (Sos et al., 2011).

However, in contrast to our model, hepatocyte JAK2 disruption in these mice resulted in

mild lobular inflammation and fibrosis at 20 weeks of age (Sos et al., 2011).

We postulate that hepatic lipid accumulation in L-JAK2 KO mice was due, at least in part,

to increased fatty acid uptake resulting from an up-regulation of CD36. This elevation in

CD36 levels was seen in all mouse models of disrupted hepatic GH signalling (Barclay et

al., 2011; Cui et al., 2007; Fan et al., 2009; Sos et al., 2011). Indeed, Cd36 transcription

can be regulated directly by STAT5 (Barclay et al., 2011; Cheung et al., 2007), or

indirectly by PPARγ, whose expression is repressed by STAT5-mediated GH signalling

(Chawla et al., 2001; Zhou and Waxman, 1999).

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VII. 5 The role of hepatocyte JAK2 in whole-body metabolic regulation

and glucose homeostasis

In Chapter V, we show that L-JAK2 KO mice were protected from HFD-induced insulin

resistance and glucose intolerance despite profound hepatosteatosis. In contrast to our

mouse model, both hepatic STAT5 (Cui et al., 2007) and GHR (Fan et al., 2009) knockout

mice developed glucose intolerance and whole-body insulin resistance. Hepatocyte-

specific deletion of the intracellular signalling domain of the leptin receptor, on the other

hand, improved hepatic insulin sensitivity, resulting in protection against age- and diet-

related glucose intolerance (Huynh et al., 2010). Phenotypic differences in these mouse

models could be attributed to the impact of Jak2 deletion on multiple other signalling

pathways such as the IL-6 pathway. In addition, compared to the knockout mice described

by Sos et al. (Sos et al., 2011), while we also found disrupted hepatic GH signalling and a

reduction in subcutaneous and visceral adipose tissue depot in our L-JAK2 KO mice, the

feedback increase in circulating GH levels was not associated with an expected decline in

insulin sensitivity and glucose tolerance. Indeed, L-JAK2 KO mice were more glucose

tolerant than their control littermates. The phenotypic disparities between the two mouse

models may be partly due to inherent strain differences.

Insulin resistance is a common finding in individuals with fatty liver and animal models of

NAFLD (Farrell and Larter, 2006; Marchesini et al., 1999; Seppala-Lindroos et al., 2002),

but the causal relationship between hepatic steatosis and insulin resistance is unclear.

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Hyperinsulinemia resulting from systemic insulin resistance can activate the transcription

of genes regulating fatty acid synthesis and triglyceride esterification through sterol

regulatory element binding protein 1c (SREBP-1c) (Matsumoto et al., 2003). Alternatively,

others have proposed that accumulation of bioactive lipid metabolites such as FFA, DAG

and ceramide can negatively regulate hepatic insulin signalling (Kim et al., 2001; Ruddock

et al., 2008; Ussher et al., 2010). On the other hand, emerging data suggest that steatosis

and insulin resistance may be two separate manifestations of the metabolic disturbances in

response to nutritional overload (Arkan et al., 2005). Specifically, an increase in circulating

pro-inflammatory adipokines such as TNF-α, IL-6 and resistin in the context of visceral

obesity leads to activation of inflammatory pathways that impair insulin signal transduction

in the liver (Shoelson et al., 2006). Here we show that impairment in hepatic insulin

signalling mediated by Jak2 deletion, possibly as a consequence of accumulation of fatty

acid metabolites, can occur independently of changes in whole-body insulin sensitivity and

in the absence of systemic inflammation.

Despite the presence of profound fatty liver and dysregulated hepatic glucose production,

L-JAK2 KO mice showed a remarkable protection against HFD-induced glucose tolerance.

This metabolically beneficial profile was also apparent in chow-fed animals and could be

due to several reasons. First, elevated levels of circulating leptin in L-JAK2 KO mice may

improve their metabolic profile by central regulation of energy homeostasis (Gautron and

Elmquist, 2011). Consistent with the role of leptin in the control of energy balance, L-

JAK2 KO mice displayed elevated energy expenditure compared to control littermates.

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Alternatively, the feedback increase in circulating GH concentration in L-JAK2 KO mice

may also favor an increase in basal metabolic rate. Several lines of evidence suggest that

high concentrations of GH stimulate resting energy expenditure independent of changes in

lean body mass (Bray, 1969; Wolthers et al., 1996), although the underlying mechanisms

are not fully elucidated.

The protection against diet-induced glucose intolerance, on the other hand, may be

explained by the compensatory increase in β-cell mass and the enhancement in glucose-

stimulated insulin secretion in response to blunted insulin signalling in the liver in L-JAK2

KO mice. The effects of impaired hepatic insulin signalling on β cell mass have been well

documented. For instance, hepatocyte-specific deletion of the insulin receptor has be

shown to lead to β cell hyperplasia and hyperinsulinemia (Michael et al., 2000). In this

model, IGF-1 was thought to act as a liver-derived growth factor to drive compensatory β

cell hyperplasia through insulin receptor A isoform (Escribano et al., 2009). Alternatively,

hepatic activation of ERK signalling, which is enhanced in the setting of obesity-induced

insulin resistance, has been proposed to stimulate β cell proliferation through a neuronal-

mediated relay of metabolic signals to the pancreas (Imai et al., 2008). In addition to

impaired hepatic insulin signalling, our L-JAK2 KO mice display impaired hepatic GH

signalling and a significant reduction in IGF-1 production, leading to a compensatory

increase in circulating GH levels. GH signalling in β cells has recently been shown to be

required for glucose-stimulated insulin secretion and compensatory β cell proliferation

under the stress of a HFD (Wu et al., 2011b). Therefore, attenuated hepatic insulin

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signalling together with increased GH may contribute to the β-cell proliferation observed

in L-JAK2 KO mice. Taken together, our results highlight the multiple important roles of

hepatic JAK2 in metabolic regulation and glucose homeostasis.

VII. 6 Concluding remarks and future direction

The results presented in this thesis suggest that JAK2 acts to keep lipid content in check in

metabolic tissues with high lipid turnover. In the liver, JAK2 prevents development of

hepatic steatosis by inhibiting lipid uptake whereas in fat, JAK2 promotes efficient

lipolysis in white adipose tissue and enhances thermogenesis by regulating UCP1

expression in BAT. We propose that disruption of this important regulator leads to

excessive lipid accumulation locally. This promotes neutral lipid storage and prevents

spillover into the circulation and other organs. Consequently, despite massive liver

steatosis, hepatocyte-specific Jak2 knockout mice did not develop inflammatory liver

damage and were in fact protected from high-fat diet-induced obesity and glucose

intolerance. In the case of adipocyte JAK2 deficiency, lipolysis in white adipose tissue as

well as thermogenesis in BAT is impaired, resulting in energy storage in the form of lipid

droplets in adipocytes. This lipid accumulation was initially benign with no adverse effects

on metabolic variables. However, the progressive deposition of lipid eventually exceeded

the storage capacity of existing adipocytes, leading to the release of FFA into the

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circulation and the ensuing metabolic consequences as mice grew older or when challenged

with metabolic stress.

In summary, our work has identified novel roles of the JAK-STAT pathway in metabolism

and shed light on the pathophysiology of obesity and the metabolic syndrome. We show

that JAK2 has critical and distinct functions in different metabolic tissues that together

regulate lipid and glucose metabolism and contribute to the maintenance of overall energy

homeostasis. Future work includes delineating the underlying molecular mechanisms and

the specific STAT proteins that mediate the metabolic effects of JAK2. In addition, the

impact of JAK2 deficiency on long-term obesity complications including cardiovascular

disease and liver cancer warrants further investigation. Given the pleiotropic role of JAK2

in metabolic homeostasis, as JAK2 inhibitors are becoming available for the treatment of

myeloproliferative disorders, it will be imperative to examine the safety profile of these

inhibitors with respect to their impact on metabolism. Taken together, better understanding

of the role of JAK-STAT in metabolism and energy homeostasis will provide important

insight into the pathogenesis of the metabolic syndrome and facilitate development of

novel treatment strategies for obesity and associated complications.

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