The biochemical characterization of a missense mutation m.8914C>T in ATP6 gene associated with mitochondrial encephalomyopathy.

Mutations in ATP6 gene are frequent causes of mitochondrial encephalomyopathies. ATP6 gene encodes one subunit of complexⅤ. The present study described a missense mutation in ATP6 gene in a 8-year-old Chinese boy with mitochondrial encephalomyopathy. We identified one missense mutation in ATP6 gene (m.8914C>T) by mitochondrial DNA sequencing. This mutation altered the amino acid proline in serine, and alterative protein is predicted to be harmful. The mutation load in blood sample of patient is 59.49%. Activity of all mitochondrial complexes in blood are normal, however, the total function of mitochondrial oxidative phosphorylation were declined (including pathwayⅠ, pathwayⅡ and pathwayⅣ). The missense mutation (m.8914C>T) in ATP6 gene could result in abnormal function of complexV and is related with mitochondrial encephalomyopathy.