Article
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
Cellular and molecular neurobiology - 1 Mar 2009
Heidari Mohammad Mehdi, Houshmand Massoud, Hosseinkhani Saman, Nafissi Shahriar, Scheiber-Mojdehkar Barbara, Khatami Mehri
Abstract excerpt
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein Frataxin. Frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. Mitochondrial DNA (mtDNA) could be considered a candidate modifier factor for FRDA disease, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of...
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