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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.
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
URL: http://dx.doi.org/10.1016/j.nmd.2012.03.006
DOI: 10.1016/j.nmd.2012.03.006
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