Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

G Fayet, M Jansson, D Sternberg, AR Moslemi… - Neuromuscular …, 2002 - Elsevier
Although mitochondrial DNA deletions have been shown to accumulate in cytochrome c
oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point
mutations. In this study, we investigated the occurrence of mitochondrial DNA alterations
(point mutations and deletions) in cytochrome c oxidase deficient muscle fibres from 14
individuals, without muscle disease, aged 69–82 years. Immunohistochemical investigation
showed that the majority of the cytochrome c oxidase deficient muscle fibres expressed …