Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Hdl Handle:
http://hdl.handle.net/10147/254544
Title:
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Authors:
Pitceathly, Robert D S; Murphy, Sinéad M; Cottenie, Ellen; Chalasani, Annapurna; Sweeney, Mary G; Woodward, Cathy; Mudanohwo, Ese E; Hargreaves, Iain; Heales, Simon; Land, John; Holton, Janice L; Houlden, Henry; Blake, Julian; Champion, Michael; Flinter, Frances; Robb, Stephanie A; Page, Rupert; Rose, Michael; Palace, Jacqueline; Crowe, Carol; Longman, Cheryl; Lunn, Michael P; Rahman, Shamima; Reilly, Mary M; Hanna, Michael G
Affiliation:
From the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Citation:
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 2012, 79 (11):1145-54 Neurology
Publisher:
Neurology
Journal:
Neurology
Issue Date:
11-Sep-2012
URI:
http://hdl.handle.net/10147/254544
DOI:
10.1212/WNL.0b013e3182698d8d
PubMed ID:
22933740
Abstract:
Charcot-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).
Item Type:
Article
Language:
en
ISSN:
1526-632X

Full metadata record

DC FieldValue Language
dc.contributor.authorPitceathly, Robert D Sen_GB
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorCottenie, Ellenen_GB
dc.contributor.authorChalasani, Annapurnaen_GB
dc.contributor.authorSweeney, Mary Gen_GB
dc.contributor.authorWoodward, Cathyen_GB
dc.contributor.authorMudanohwo, Ese Een_GB
dc.contributor.authorHargreaves, Iainen_GB
dc.contributor.authorHeales, Simonen_GB
dc.contributor.authorLand, Johnen_GB
dc.contributor.authorHolton, Janice Len_GB
dc.contributor.authorHoulden, Henryen_GB
dc.contributor.authorBlake, Julianen_GB
dc.contributor.authorChampion, Michaelen_GB
dc.contributor.authorFlinter, Francesen_GB
dc.contributor.authorRobb, Stephanie Aen_GB
dc.contributor.authorPage, Ruperten_GB
dc.contributor.authorRose, Michaelen_GB
dc.contributor.authorPalace, Jacquelineen_GB
dc.contributor.authorCrowe, Carolen_GB
dc.contributor.authorLongman, Cherylen_GB
dc.contributor.authorLunn, Michael Pen_GB
dc.contributor.authorRahman, Shamimaen_GB
dc.contributor.authorReilly, Mary Men_GB
dc.contributor.authorHanna, Michael Gen_GB
dc.date.accessioned2012-12-05T12:02:31Z-
dc.date.available2012-12-05T12:02:31Z-
dc.date.issued2012-09-11-
dc.identifier.citationGenetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 2012, 79 (11):1145-54 Neurologyen_GB
dc.identifier.issn1526-632X-
dc.identifier.pmid22933740-
dc.identifier.doi10.1212/WNL.0b013e3182698d8d-
dc.identifier.urihttp://hdl.handle.net/10147/254544-
dc.description.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).en_GB
dc.language.isoenen
dc.publisherNeurologyen_GB
dc.rightsArchived with thanks to Neurologyen_GB
dc.titleGenetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.en_GB
dc.typeArticleen
dc.contributor.departmentFrom the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.en_GB
dc.identifier.journalNeurologyen_GB
dc.description.provinceLeinsteren

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