Cited by 530Mitochondrial Function and PathologyForensic and Genetic ResearchGenetic factors in colorectal cancer

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Mitochondrial DNA mutations in human colonic crypt stem cells

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Taylor, Robert W., Barron, Martin J., Borthwick, Gillian M., Gospel, Amy, Chinnery, Patrick F., Samuels, David C., Taylor, Geoffrey A., Plusa, Stefan M., Needham, Stephanie J., Greaves, Laura C., Kirkwood, Thomas B.L., Turnbull, Douglass M.·2003·Journal of Clinical Investigation

DOI 10.1172/jci19435PMC PMC228466

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Abstract

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.

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Authors: Taylor, R. W., Barron, M. J., Borthwick, G. M., Gospel, A., Chinnery, P. F., Samuels, D. C., Taylor, G. A., Plusa, S. M., Needham, S. J., Greaves, L. C., Kirkwood, T. B. L., & Turnbull, D. M.
Affiliations: Newcastle University (GB)
Corresponding author: Turnbull, Douglass M.
ORCID: Taylor, Robert W.
Barron, Martin J.
Borthwick, Gillian M.
Chinnery, Patrick F.
Samuels, David C.
Greaves, Laura C.
Kirkwood, Thomas B.L.
Turnbull, Douglass M.
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2003-11-01
Volume: 112
Issue: 9
Pages: 1351-1360
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci19435
PMC: PMC228466
OpenAlex: W2158615962
Cited by: 530
References: 48
Citations by year: 2026: 8 · 2025: 11 · 2024: 12 · 2023: 14 · 2022: 15 · 2021: 20 · 2020: 23 · 2019: 13 · 2018: 17 · 2017: 18 · 2016: 25 · 2015: 16 · 2014: 40 · 2013: 25 · 2012: 23
FWCI: 8.62
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Clinical Investigation (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Newcastle University ePrints (Newcastle Univesity)
Funders: Wellcome Trust
Cancer Research UK
Medical Research Council
Biotechnology and Biological Sciences Research Council (BEP17 042)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: mitochondrial DNA mutations, mitochondrial genome, electron transport chain, uniparental inheritance, mtDNA polymorphisms, aging, cancer, mutation frequency
MeSH terms: Aged, Aged, 80 and over, Colon, DNA Replication, DNA, Mitochondrial, Electron Transport, Humans, Mathematics, Middle Aged, Models, Genetic, Mutation, Stem Cells

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Mitochondrial DNA mutations in human colonic crypt stem cells

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