Cardiomyopathy in Friedreich's ataxia.

Abstract:

:Friedreich's ataxia (FRDA), an autosomal recessive disorder, is characterized by spinocerebellar degeneration and cardiomyopathy. Here we explore some of the putative mechanisms underlying the cardiomyopathy in FRDA that have been elucidated using different experimental models. FRDA is characterized by a deficiency in frataxin, a protein vital in iron handling. Iron accumulation, lack of functional iron-sulphur clusters, and oxidative stress seem to be among the most important consequences of frataxin deficiency explaining the cardiac abnormalities in FRDA.

journal_name

Acta Neurol Belg

journal_title

Acta neurologica Belgica

authors

Rahman F,Pandolfo M

subject

Has Abstract

pub_date

2011-09-01 00:00:00

pages

183-7

issue

3

eissn

0300-9009

issn

2240-2993

journal_volume

111

pub_type

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