Format

Send to

Choose Destination
See comment in PubMed Commons below
Arch Neurol. 1999 Oct;56(10):1201-8.

Molecular pathogenesis of Friedreich ataxia.

Author information

1
Centre Hospitalier de l'Université de Montréal, Québec, Canada. massimo.pandolfo@umontreal.ca

Abstract

Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique features of natural history and evolution. Frataxin is a mitochondrial protein that has homologues in yeast and even in gram-negative bacteria. Yeast organisms deficient in the frataxin homologue accumulate iron in mitochondria and show increased sensitivity to oxidative stress. This suggests that Friedreich ataxia is caused by mitochondrial dysfunction and free radical toxicity.

PMID:
10520935
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Support Center