Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

Abstract excerpt

Friedreich's Ataxia (FA) is the commonest genetic cause of ataxia and is associated with the expansion of a GAA repeat in intron 1 of the frataxin gene. Iron accumulation in the mitochondria of patients with FA would result in hypersensitivity to oxidative stress. Mitochondrial DNA (mtDNA) could be considered a candidate modifier factor for FA disease, since mitochondrial oxidative stress is thought to be...

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