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PMID: 15861210 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Mitochondrial DNA mutations in human disease.

Nature reviews. Genetics ·Vol. 6 ·No. 5 ·2005-05-00 ·Pages 389-402

Taylor RW, Turnbull DM

Abstract

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.

MeSH Terms
Aging/genetics DNA, Mitochondrial/genetics Humans Mitochondrial Diseases/genetics,prevention & control Mutation/genetics Neoplasms/genetics
Chemicals
DNA, Mitochondrial
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Taylor Robert W
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom.
Turnbull Doug M
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0056
DOI
10.1038/nrg1606
Published
2005-05-00
Pages
389-402
Language
English
Region
England
NLM ID
100962779
PMCID
PMC1762815
Subset
IM
Grants
Wellcome Trust · 074454 · United Kingdom
External Links
PubMed source DOI: 10.1038/nrg1606 PMC Full Text View journal details
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