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The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

Lookup NU author(s): Dr Joanna Elson, Dr David Samuels, Dr Margaret Johnson, Professor Doug Turnbull, Professor Patrick Chinnery

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Abstract

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 .


Publication metadata

Author(s): Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2002

Volume: 12

Issue: 9

Pages: 858-864

Print publication date: 01/11/2002

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/S0960-8966(02)00047-0

DOI: 10.1016/S0960-8966(02)00047-0

PubMed id: 12398838


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