Lookup NU author(s): Professor Robert Taylor,
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.
Author(s): Taylor RW, Turnbull DM
Publication type: Review
Publication status: Published
Journal: Nature Reviews Genetics
Print publication date: 01/05/2005
ISSN (print): 1471-0056
ISSN (electronic): 1471-0064
PubMed id: 15861210