Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
Mitochondrion(2020)
Abstract
To address the frequency of complex V defects, we systematically sequenced MT-ATP6/8 genes in 512 consecutive patients. We performed functional analysis in muscle or fibroblasts for 12 out of 27 putative homoplasmic mutations and in cybrids for four. Fibroblasts, muscle and cybrids with known deleterious mutations underwent parallel analysis. It included oxidative phosphorylation spectrophotometric assays, western blots, structural analysis, ATP production, glycolysis and cell proliferation evaluation. We demonstrated the deleterious nature of three original mutations. Striking gradation in severity of the mutations consequences and differences between muscle, fibroblasts and cybrids implied a likely under -diagnosis of human complex V defects.
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Key words
Mitochondrial DNA,ATP synthase,Cybrids,Oxidative phosphorylation,Mitochondrial disease,Homoplasmy
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