Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
AuthorsPitceathly, Robert D S
Murphy, Sinéad M
Sweeney, Mary G
Mudanohwo, Ese E
Holton, Janice L
Robb, Stephanie A
Lunn, Michael P
Reilly, Mary M
Hanna, Michael G
AffiliationFrom the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
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CitationGenetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 2012, 79 (11):1145-54 Neurology
AbstractCharcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the essential requirement of ATP for axonal function. We identified the mtDNA mutation m.9185T>C in MT-ATP6, encoding the ATP6 subunit of the mitochondrial ATP synthase (OXPHOS complex V), at homoplasmic levels in a family with mitochondrial disease in whom a severe motor axonal neuropathy was a striking feature. This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8, might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN).
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