Cited by 340Mitochondrial Function and PathologyEvolution and Genetic DynamicsForensic and Genetic Research

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age

Open access
Elson, J.L., Samuels, D.C., Turnbull, D.M., Chinnery, P.F.·2001·The American Journal of Human Genetics

Abstract

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.

Integrity signals

Registry

Crossref · 10.1086/318801

Cites

30 of 30 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • This expansion is thought to be a result of random genetic drift, dependent on relaxed replication of the mitochondrial genome.

    “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]

Cites

Flagged first, then by citations

1 of the 31 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

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)
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
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review