The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Eszter Dombi,Alan Diot,Karl Morten,Janet Carver,Tiffany Lodge,Carl Fratter,Yi Shiau Ng,Chunyan Liao,Rebecca Muir,Emma L Blakely,Iain Hargreaves,Mazhor Al-Dosary, Gopa Sarkar,Simon J Hickman,Susan M Downes,Sandeep Jayawant,Patrick Yu-Wai-Man,Robert W Taylor,Joanna Poulton

NEUROLOGY（2016）

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摘要

Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in approximate to 1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects(1) and there is no proven prophylactic treatment.

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The m.13051G&gt;A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.