Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Biochem J
; 453(3): 321-36, 2013 Aug 01.
Article
in En
| MEDLINE
| ID: mdl-23849057
ABSTRACT
FRDA (Friedreich's ataxia) is a debilitating mitochondrial disorder leading to neural and cardiac degeneration, which is caused by a mutation in the frataxin gene that leads to decreased frataxin expression. The most common cause of death in FRDA patients is heart failure, although it is not known how the deficiency in frataxin potentiates the observed cardiomyopathy. The major proposed biochemical mechanisms for disease pathogenesis and the origins of heart failure in FRDA involve metabolic perturbations caused by decreased frataxin expression. Additionally, recent data suggest that low frataxin expression in heart muscle of conditional frataxin knockout mice activates an integrated stress response that contributes to and/or exacerbates cardiac hypertrophy and the loss of cardiomyocytes. The elucidation of these potential mechanisms will lead to a more comprehensive understanding of the pathogenesis of FRDA, and will contribute to the development of better treatments and therapeutics.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Friedreich Ataxia
/
Mitochondrial Diseases
/
Cardiomyopathies
Limits:
Animals
/
Humans
Language:
En
Journal:
Biochem J
Year:
2013
Document type:
Article