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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

Lookup NU author(s): Anna Butterworth, Dr Langping He, Professor Bobby McFarlandORCiD, Professor Robert Taylor



Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtDNA deletion disorders. Here we show that mutation of MPV17 - a gene implicated in severe, infantile hepatocerebral mtDNA depletion disorders characterised by a loss of mtDNA - copies can also cause clonally-expanded mtDNA deletion and focal cytochrome c oxidase (COX) deficiency in skeletal muscle associated with an adult presentation of neuropathy and leukoencephalopathy. The mpv17 protein is therefore intimately involved in both the mtDNA replication and repair processes and associated with both quantitative and qualitative mtDNA abnormalities. (c) 2012 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Blakely EL, Butterworth A, Hadden RDM, Bodi I, He LP, McFarland R, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2012

Volume: 22

Issue: 7

Pages: 587-591

Print publication date: 01/07/2012

Date deposited: 31/10/2012

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2012.03.006


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Funder referenceFunder name
UK NHS Specialised Services "Rare Mitochondrial Disorders of Adults and Children" Diagnostic Service
906919Wellcome Trust Centre for Mitochondrial Research