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Mitochondrial DNA mutations in human colonic crypt stem cells

Lookup NU author(s): Professor Robert Taylor, Dr Martin Barron, Dr Gillian Borthwick, Professor Patrick Chinnery, Dr David Samuels, Geoffrey Taylor, Dr Stefan Plusa, Dr Stephanie Needham, Dr Laura Greaves, Emeritus Professor Thomas Kirkwood, Emeritus Professor Doug Turnbull


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The mitochondrial genome encodes 13 essential subunits of the respiratory chain and has remarkable genetics based on uniparental inheritance. Within human populations, the mitochondrial genome has a high rate of sequence divergence with multiple polymorphic variants and thus has played a major role in examining the evolutionary history of our species. In recent years it has also become apparent that pathogenic mitochondrial DNA (mtDNA) mutations play an important role in neurological and other diseases. Patients harbor many different mtDNA mutations, some of which are mtDNA mutations, some of which are inherited, but others that seem to be sporadic. It has also been suggested that mtDNA mutations play a role in aging and cancer, but the evidence for a causative role in these conditions is less clear. The accumulated data would suggest, however, that mtDNA mutations occur on a frequent basis. In this article we describe a new phenomenon: the accumulation of mtDNA mutations in human colonic crypt stem cells that result in a significant biochemical defect in their progeny. These studies have important consequences not only for understanding of the finding of mtDNA mutations in aging tissues and tumors, but also for determining the frequency of mtDNA mutations within a cell.

Publication metadata

Author(s): Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Investigation

Year: 2003

Volume: 112

Issue: 9

Pages: 1351-1360

ISSN (print): 0021-9738

ISSN (electronic): 1558-8238

Publisher: American Society for Clinical Investigation


DOI: 10.1172/JCI200319435

PubMed id: 14597761


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Funder referenceFunder name
BEP17042Biotechnology and Biological Sciences Research Council