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Mitochondrial DNA mutations in disease and ageing

Lookup NU author(s): Dr David Cottrell, Dr Gillian Borthwick, Emeritus Professor Doug Turnbull


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The chronological accumulation of mitochondrial DNA mutations has been proposed as a potential mechanism in the physiological processes of ageing and age-related disease. We discuss the evidence behind this theory and relate some of the ageing mitochondrial changes to mitochondrial DNA disorders. In particular, we describe the aggregation of cytochrome c oxidase-deficient cells in both skeletal muscle and the CNS in normal ageing as seen in the mitochondrial DNA disorders. These mitochondrial enzyme-deficient cells have been shown to occur in significant quantities in both muscle and CNS in patients with mitochondrial DNA disorders. In both ageing and mtDNA disorder muscle these cytochrome c-deficient fibres contain high levels of a single mutant strain of mitochrondrial DNA. Whether these mutations are a primary or secondary event in the physiology of ageing remains to be determined.

Publication metadata

Author(s): Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM

Editor(s): G Bock, JA Goode

Series Editor(s): Novartis Foundation

Publication type: Book Chapter

Publication status: Published

Book Title: Ageing Vulnerability: Causes and Interventions

Year: 2001

Volume: 235

Pages: 234-246

Print publication date: 01/01/2001

Series Title: Novartis Foundation Symposium

Publisher: John Wiley & Sons, Ltd.

Place Published: Chichester, UK


DOI: 10.1002/0470868694.ch19

PubMed id: 11280028

Library holdings: Search Newcastle University Library for this item

ISBN: 9780471494386