ArticlePLoS genetics2012
Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 73 citations in OpenAlex.
- Mitochondrial ATP synthase 8 single-nucleotide polymorphism affects oxidative stress and survival of mice.Pflugers Archiv : European journal of physiology · 2025Article
- Comparative analysis of complete mitochondrial genomes of fourteen moray eels (Anguilliformes: Muraenidae) and primary exploration of their phylogenetic relationship and temperature adaptation.BMC ecology and evolution · 2025Article
- Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species.Nature communications · 2025Article
- Defects in the Mitochondrial Genome of Dogs with Recurrent Tumours.International journal of molecular sciences · 2024Article
- Selection promotes age-dependent degeneration of the mitochondrial genome.bioRxiv : the preprint server for biology · 2024Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- Mitochondria: A Potential Rejuvenation Tool against Aging.Aging and disease · 2024Review
- NADNature communications · 2024Article
- A Comprehensive Analysis ofGenes · 2023Article
- Biomarkers of aging.Science China. Life sciences · 2023Review
- High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Mitochondrial DNA mutations in ageing and cancer.Molecular oncology · 2022Review
- Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit.Methods in molecular biology (Clifton, N.J.) · 2021Article
- The mitochondria regulation of stem cell aging.Mechanisms of ageing and development · 2020Review
- Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.Nature cancer · 2020Article
- Mitonuclear Interactions in the Maintenance of Mitochondrial Integrity.Life (Basel, Switzerland) · 2020Review
- DNA-editing enzymes as potential treatments for heteroplasmic mtDNA diseases.Journal of internal medicine · 2020Review
- Age-Related Deterioration of Mitochondrial Function in the Intestine.Oxidative medicine and cellular longevity · 2020Review
- Somatic cell evolution: how to improve with age.The Journal of pathology · 2019Article
- Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.The Journal of pathology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Human ageing has been predicted to be caused by the accumulation of molecular damage in cells and tissues. Somatic mitochondrial DNA (mtDNA) mutations have been documented in a number of ageing tissues and have been shown to be associated with cellular mitochondrial dysfunction. It is unknown whether there are selective constraints, which have been shown to occur in the germline, on the occurrence and expansion of these mtDNA mutations within individual somatic cells. Here we compared the pattern and spectrum of mutations observed in ageing human colon to those observed in the general population (germline variants) and those associated with primary mtDNA disease. The pathogenicity of the protein encoding mutations was predicted using a computational programme, MutPred, and the scores obtained for the three groups compared. We show that the mutations associated with ageing are randomly distributed throughout the genome, are more frequently non-synonymous or frameshift mutations than the general population, and are significantly more pathogenic than population variants. Mutations associated with primary mtDNA disease were significantly more pathogenic than ageing or population mutations. These data provide little evidence for any selective constraints on the occurrence and expansion of mtDNA mutations in somatic cells of the human colon during human ageing in contrast to germline mutations seen in the general population.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.