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

Abstract

Maternally inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber hereditary optic neuropathy (LHON) in ∼1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects1 and there is no proven prophylactic treatment. Acknowledgment : Teams in Oxford and Newcastle acknowledge the support of the NHS Highly Specialized Rare Mitochondrial Disorders of Adults and Children Service. The authors thank the patients and their families and clinicians for participating and Aviva Tolkovsky and Stephen Kennedy for their support.