MtDNA 9205delTA microdeletion in the MT-ATP6/MT-CO3 gene alters the structure of ATP synthase, down-regulates the content of cytochrome c oxidase and thus impairs mitochondrial ATP production. The disease severity depends on the threshold at about 90% of the mutation load.

Keywords:
ATP synthase, cytochrome c oxidase, mitochondrial diseases, mtDNA MT-ATP6 mutation, oxidative phosphorylation, threshold effect
© The Authors Journal compilation © 2015 Biochemical Society
2015
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