Journal
NEUROMUSCULAR DISORDERS
Volume 22, Issue 7, Pages 587-591Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2012.03.006
Keywords
Mitochondrial DNA; mtDNA maintenance; Multiple mtDNA deletions; Neuropathy; COX-deficient fibres
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Funding
- Wellcome Trust Centre for Mitochondrial Research [906919]
- UK NHS Specialised Services Rare Mitochondrial Disorders of Adults and Children Diagnostic Service
- MRC [G0800674] Funding Source: UKRI
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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.
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