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Role of mitochondrial DNA mutations in disease and aging

Lookup NU author(s): Dr David Cottrell, Dr Emma Watson, Dr Gillian Borthwick, Dr Margaret Johnson, Geoffrey Taylor, Emeritus Professor Doug Turnbull


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Since Harman in 1972 first proposed a role in the process of aging for the mitochondrial genome, a wealth of evidence has been accumulated to support this theory. We discuss the hereditary mitochondrial DNA disorders, which we believe may give insight into both normal aging and neurodegenerative conditions. We then review the evidence for the role of mitochondrial DNA mutations in both aging and age-related disorders and also discuss new approaches for investigating the mitochondrial genome at a single cell level, by observing the activity of the mitochondrial enzyme cytochrome c oxidase.

Publication metadata

Author(s): Taylor GA; Borthwick GM; Blakely EL; Cottrell DA; Johnson MA; Turnbull DM; Brierley EJ; Ince PG

Publication type: Article

Publication status: Published

Journal: Annals of the New York Academy of Sciences

Year: 2000

Volume: 908

Issue: 1

Pages: 199-207

ISSN (print): 0077-8923

ISSN (electronic): 1749-6632

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1111/j.1749-6632.2000.tb06647.x

PubMed id: 10911959


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