calcitonin mutations, their relationship with arrhytmia and translation error in the brain of...

Calcitonin mutations, their relationship with arrhytmia and translation error in the brain of dementia patients.

María Camila Vélez Peláez III Semestre, Medicina.-UPB

Biología Molecular.

FOLDING

INTRODUCCIÓN

Studies suggest abnormal protein transcription relates with hereditary neurodegenerative diseases

Several coding mutations of Camodulin, a protein that plays an important role on heart contraction, might that lead to pathologic conditions

Molecular path-ways relevance.

New #1:Translation Error Tracked in the Brain of Dementia Patients: Enigmatic Aggregates Linked to neurodegeneration.

Hereditary neurodegenerative diseases such as FDT and ALS have a genetic component

Unusual protein aggregates were

found.


TWO FACTS WERE

ASOCIATED

1. Hundreds*of copies of DNA sequence GGGGCC one after another, in C9 or f72.

*Normaly people have less than 20.


2. Abnormal translation (lacking starting signal) was proved to be happening by an unknown mechanism with cell culture experiment.

TWO FACTS WERE

ASOCIATED

Proteins found, tend to

aggregate and are not very

soluble

Nerve cell damage.

Elucidating the mechanism by which this proteins are translated might result in a target for therapy .


OBSERVATION

Association of different facts, such as the two

named in this studies is needed in the research

process to actually find relevant information. In

this case, this might lead to treatment options not

only in this case, but also de discovery of new

translation mechanisms, that could be occurring

in different situations .

New #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders

1. Two children presented early cardiac arrests.

2. Was it de Novo modulation of

genes coding for calmodulin?

Noticia #2: Calcium-Binding Protein Mutations Found in Heart Rhythm Disorders

3.Both children and their parents are

scanned in search of mutations.

De novo mutations were found in 2 of the 3 genes

coding for calmodulin


4. Complement studies showed calmodulin mutations in patients with Long QT syndrome.

5. Calmodulin mutations are said to impair binding

between calcium and calmodulin, which leads to

heat contraction abnormalities.

6. There´s a suggestion to continue studies, which is important specialy in children.


OBSERVATION

Acute observation is one of the main strengths of

the investigation the article describes, it proves that

if one can take two individuals from different

environments and relate their conditions, ultimately

an origin can be found. Apart from this, I think

authors should emphasize in making this genes get

into the list of mutations of children with arrhythmias.

MEDICAL UTILITY

Gene scanning is proved to be a

growing need in matters of, not only

accurate diagnostication , but

prevention of particular diseases.

MEDICAL UTILITY

Genetic findings conceal information

that reveals physiopathology and

mechanisms that DNA goes though in particular situations.

Better understanding of

disease.

MEDICAL UTILITY

Therapeutic targets can be found and

treatments developed as

molecular pathways are understood.

MEDICAL UTILITY

Particularly

ALS and FDT patients are closer to a possible

treatment

Calmodulin genes can now be taken into

account in gene testing for arrhythmias in

children.

BIBLIOGRAPHY

Translation Error Tracked in the Brain of Dementia Patients:

Scientists Identify Enigmatic Aggregates Linked to

Neurodegenerative Diseases. Science Daily. February 13 /2013.

Calcium-Binding Protein Mutations Found in Heart Rhythm

Disorders .Science Daily. February 13 /2013.

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