OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy

M Isabel G Lopez Sanchez,Nicole J Van Bergen,Lisa S Kearns,Mark Ziemann,Helena Liang,Alex W Hewitt,David A Mackey,Ian A Trounce

Mitochondrion（2020）

引用 5|浏览22

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摘要

•OXPHOS bioenergetic compensation in LHON cells does not explain disease phenotype.•LHON affected cells display transcriptional downregulation of metabolic pathways.•LHON affected cells suffer a growth impairment under metabolic challenge.•LHON unaffected carrier cells are not affected by metabolic challenge.•Decreased susceptibility to metabolic challenge may preserve metabolic homeostasis.

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