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.
MetadataShow full item record
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).
- Genetic epidemiology of Charcot-Marie-Tooth disease.
- Authors: Braathen GJ
- Issue date: 2012
- Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
- Authors: Panosyan FB, Tawil R, Herrmann DN
- Issue date: 2017 Jun
- Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
- Authors: Solla P, Vannelli A, Bolino A, Marrosu G, Coviello S, Murru MR, Tranquilli S, Corongiu D, Benedetti S, Marrosu MG
- Issue date: 2010 Sep
- Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
- Authors: Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A
- Issue date: 2013 Nov 19
- Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
- Authors: Luigetti M, Fabrizi GM, Bisogni G, Romano A, Taioli F, Ferrarini M, Bernardo D, Rossini PM, Sabatelli M
- Issue date: 2016 May