A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies (original) (raw)
Background: The MT-ATP6 gene is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase. The latter corresponds to mitochondrial complex V, which intervenes in the last step of oxidative phosphorylation to produce cellular ATP through aerobic metabolism. Although classically associated with the NARP syndrome, recent evidences point out to an important role of MT-ATP6 pathogenic variants in complicated adult onset ataxias. Methods: We described two unrelated patients with adult onset cerebellar ataxia associated with severe optic atrophy and mild cognitive impairment. We performed the sequencing of the whole mitochondrial DNA. We employed patients’ primary fibroblasts and cytoplasmic hybrids (cybrids), generated from patients-derived cells, to assess the activity of respiratory chain, oxygen consumption rate (OCR), ATP production and mitochondrial membrane potential. Results: In both patients, we identified the same novel m.8777T>...
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