Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres

被引:17
作者
Chinnery, PF
Howel, D
Turnbull, DM
Johnson, MA
机构
[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] Univ Newcastle Upon Tyne, Dept Stat, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
基金
英国惠康基金;
关键词
mitochondrial encephalomyopathy; mitochondrial myopathy; cytochrome c oxidase deficiency; mitochondrial DNA; heteroplasmy; clustering/random arrangement;
D O I
10.1016/S0022-510X(03)00039-X
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We studied the accumulation of cytochrome c oxidase (COX)-negative skeletal muscle fibres in six patients with a myopathy due to a mitochondrial DNA (mtDNA) defect. Each patient was biopsied on two or more occasions over a period of 3-15 years. Progressive proximal weakness was associated with an increase in the proportion of COX-negative fibres. These fibres were arranged randomly, indicating that each fibre became COX negative independently of the status of neighbouring fibres. The clinical progression of mtDNA myopathy is therefore a consequence of a biochemical defect that develops independently within individual muscle fibres. It is likely that this is due to the clonal expansion of mutant mtDNA. (C) 2003 Elsevier Science B.V. All rights reserved.
引用
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页码:63 / 66
页数:4
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