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Mitochondrial DNA mutations in human disease

Lookup NU author(s): Professor Robert Taylor, Emeritus Professor Doug Turnbull


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The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.

Publication metadata

Author(s): Taylor RW, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Nature Reviews Genetics

Year: 2005

Volume: 6

Issue: 5

Pages: 389-402

Print publication date: 01/05/2005

ISSN (print): 1471-0056

ISSN (electronic): 1471-0064


DOI: 10.1038/nrg1606

PubMed id: 15861210