1 genomics, transcriptomics, proteomics, metabolomics, and exercise
TRANSCRIPT
1
Genomics, transcriptomics, proteomics, metabolomics, and exercise
Ex Biochem c9-genetics 2
Genomics 基因體學
Ex Biochem c9-genetics 3
Familial aggregation of VO2max
Ex Biochem c9-genetics 4
Design of genetic studies -1
Ex Biochem c9-genetics 5
Design of genetic studies -2
Ex Biochem c9-genetics 6
Performance/fitness phenotypes
Fast growing after completion of Human Genome Project
>170 genes associated with performance or health-related fitness in 2006 Only 29 in 2001
Ex Biochem c9-genetics 7
Rankinen T, MSSE, 2006
Genes may affect performance, fitness
Ex Biochem c9-genetics 8
Ex Biochem c9-genetics 9
Ex Biochem c9-genetics 10
Ex Biochem c9-genetics 11DNA microarray 微陣列 , gene chip 基因晶片 Specific nucleotide base pairing 1 small chip can contain thousands of spots
Ex Biochem c9-genetics 12
Ex Biochem c9-genetics 13
Ex Biochem c9-genetics 14
ACE and endurance performance Angiotension-converting enzyme
Angiotensinogen angiotensin II, vacoconstrictor 287 nucleotide insertion/deletion polymorphism
Effect of genotypes on VO2max inconsistent Greater muscle efficiency in I/I compated to D/D
Efficiency: Work performed per unit energy expenditure No association at baseline: potential gene x environment
interaction Trainability
D allele: ↑muscle growth?
Ex Biochem c9-genetics 15
Ex Biochem c9-genetics 16
ACE polymorphism in Olympic runners
Ex Biochem c9-genetics 17
Ex Biochem c9-genetics 18
ACTN3 and muscle performance Alpha-actinin 3
R577X (arginine stop codon at codon 577) X-allele frequency 25-50% in different populations
In patients with several muscular disorders: X/X genotype complete absence of ACTN3 protein Only by chance, ACTN deficiency not deleterious
because its function can be compensated by ACTN2 X/X reduce performance in sprint or power-related
sports
Ex Biochem c9-genetics 19
Ex Biochem c9-genetics 20
Myostatin and muscle mass
Disabled myostatin gene increase muscle size
Mutation rare in humans
Ex Biochem c9-genetics 21Myostatin mutations in animals
Ex Biochem c9-genetics 22
Ex Biochem c9-genetics 23
Molecular scouting? Exercise is a very complicated physiological
function May involve more than 1 gene > 100 genes turn on/off after a single bout of exercise
Need to look for combination of genes Current techniques available
Gene chips, computer aided
Ex Biochem c9-genetics 24
Ex Biochem c9-genetics 25
Gene polymorphism in power athletes
Ruiz et al, 2010
Ex Biochem c9-genetics 26
Gene polymorphism in power athletes
Ruiz et al, 2010
Ex Biochem c9-genetics 27
Gene therapy and gene doping Gene therapy successfully used in several clinical
conditions Somatic cell gene therapy Germ cell gene therapy Gene doping: possible and may already being used
2006, a German coach asked for Repoxygen, a virus-based gene therapy product designed to deliver human EPO gene to muscle cells
Originally used to treat severe anemia, successful in treating mice
Almost impossible to detect Tissue sampling, DNA sequence
Ex Biochem c9-genetics 28
Ex Biochem c9-genetics 29
轉錄體學
Ex Biochem c9-genetics 30
Ex Biochem c9-genetics 31
Ex Biochem c9-genetics 32
Ex Biochem c9-genetics 33
Proteomics 蛋白質體學
Ex Biochem c9-genetics 34
Ex Biochem c9-genetics 35
Ex Biochem c9-genetics 36
Ex Biochem c9-genetics 37
Ex Biochem c9-genetics 38Analytical and functional protein microarray
a, Analytical protein microarray. Different types of ligands are spotted
b, Functional protein microarray. Native proteins or peptides are arrayed onto a suitable surface
http://www.nature.com/nature/journal/v422/n6928/fig_tab/nature01512_F1.html
Ex Biochem c9-genetics 39
Metabolomics 代謝體學 Changes of
metabolites Separated then
identified by mass spectrometry (MS 質譜儀 ) or nuclear magnetic resonance (NMR 核磁共振 )
Lewis, 2010
Ex Biochem c9-genetics 40
Enea, 2010