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Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age
Open accessAbstract
Human tissues acquire somatic mitochondrial DNA (mtDNA) mutations with age. Very high levels of specific mtDNA mutations accumulate within individual cells, causing a defect of mitochondrial oxidative metabolism. This is a fundamental property of nondividing tissues, but it is not known how it comes about. To explore this problem, we developed a model of mtDNA replication within single human cells. Using this model, we show that relaxed replication of mtDNA alone can lead, through random genetic drift, to the clonal expansion of single mutant events during human life. Significant expansions primarily develop from mutations acquired during a critical period in childhood or early adult life.
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“This expansion is thought to be a result of random genetic drift, dependent on relaxed replication of the mitochondrial genome [66].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [66]
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Metadata
- Authors
- Elson, J. L., Samuels, D. C., Turnbull, D. M., & Chinnery, P. F.
- Affiliations
- Newcastle University (GB)
- Corresponding author
- Chinnery, P.F.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-03
- Volume
- 68
- Issue
- 3
- Pages
- 802-806
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1274494
- OpenAlex
- W2042734644
- Cited by
- 340
- References
- 31
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 15 · 2023: 8 · 2022: 10 · 2021: 12 · 2020: 14 · 2019: 18 · 2018: 17 · 2017: 9 · 2016: 8 · 2015: 19 · 2014: 22 · 2013: 13 · 2012: 10
- FWCI
- 6.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- mitochondrial DNA mutations, clonal expansion, somatic mutations, genetic drift, mitochondrial DNA replication, aging, oxidative metabolism, single-cell model, mutation accumulation
- MeSH terms
- Adult, Aging, Child, DNA Replication, DNA, Mitochondrial, Gene Frequency, Humans, Mitochondria, Models, Genetic, Mutation, Oxidative Phosphorylation, Probability, Founder Effect
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