Lookup NU author(s): Dr Joanna Elson,
Dr David Samuels,
Dr Margaret Johnson,
Professor Doug Turnbull,
Professor Patrick Chinnery
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Heteroplasmic mitochondrial DNA mutations often cause a skeletal myopathy associated with a mosaic distribution of cytochrome c oxidase-deficient muscle fibres. The function of an individual muscle fibre is dependent upon the metabolic activity throughout its length, but little is known about the length of cytochrome c oxidase-deficient segments in human skeletal muscle in patients with mitochondrial disease. We studied cytochrome c oxidase activity by serial section analysis of quadriceps muscle from two patients. We observed a striking variation in the length of the cytochrome c oxidase-negative segments. The shortest segments were 10 μm long, and the longest segment was the entire length of the larger biopsy (≥1.2 mm). The lengths of the cytochrome c oxidase-negative segments were generally shorter in the less severely affected biopsy, and we frequently observed non-contiguous segments of cytochrome c oxidase deficiency within the same muscle fibre. The findings have important implications for our understanding of the pathogenesis and progression of mitochondrial DNA myopathy. Copyright © 2002 .
Author(s): Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Print publication date: 01/11/2002
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
PubMed id: 12398838
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