Point Mutation on mitochondrial DNA in Iranian patients with Friedreich's Ataxia

AbstractMitochondrial DNA (mtDNA) could be considered a candidate modifier factor for neurodegenerative disorders. Friedreich''s ataxia is the most common inherited ataxia. Clinically, Friedreich''s ataxia is characterized by multiple symptoms including progressive gait and limb ataxia, dysarthria, diabetes mellitus, and hypertrophic cardiomyopathy. Following the symptoms, failure in ATP production and presence of free radicals in mitochondria of patients with FA was the reason for us to investigate different parts of mtDNA in 20 Iranian FA patients, by PCR and automated DNA sequencing to find any probable point mutation that can be involved as an adjunct in the pathogenesis of FA. This study remarked that none of the gleanings mentioned initially can have effect on occurring point mutations even on hot spot parts of mtDNA (MT-LTI (tRNALeucine1(UUA/G), MT-TK (tRNALysine).