ArticlePLoS genetics2013
Somatic mtDNA mutation spectra in the aging human putamen.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 86 citations in OpenAlex.
- Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences.bioRxiv : the preprint server for biology · 2026Article
- Mammalian mitochondrial DNA accumulates insertions and deletions with age in energetically demanding tissues.Molecular biology and evolution · 2026Article
- Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.Scientific reports · 2025Article
- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- High heteroplasmy is associated with low mitochondrial copy number and selection against non-synonymous mutations in the snail Cepaea nemoralis.BMC genomics · 2024Article
- Mitochondrial haplotype and mito-nuclear matching drive somatic mutation and selection throughout ageing.Nature ecology & evolution · 2024Article
- Linear DNA-driven recombination in mammalian mitochondria.Nucleic acids research · 2024Article
- MtDNA deletions and aging.Frontiers in aging · 2024Review
- Mitochondrial haplotype and mito-nuclear matching drive somatic mutation and selection throughout aging.bioRxiv : the preprint server for biology · 2023Article
- Article
- mtDNA Maintenance and Alterations in the Pathogenesis of Neurodegenerative Diseases.Current neuropharmacology · 2023Review
- Mutation accumulation in mtDNA of cancers resembles mutagenesis in normal stem cells.iScience · 2022Article
- Article
- Aging-associated accumulation of mitochondrial DNA mutations in tumor origin.Life medicine · 2022Review
- Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The Complicated Nature of Somatic mtDNA Mutations in Aging.Frontiers in aging · 2022Article
- A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.Nucleic acids research · 2021Article
- R-loops and regulatory changes in chronologically ageing fission yeast cells drive non-random patterns of genome rearrangements.PLoS genetics · 2021Article
- Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The accumulation of heteroplasmic mitochondrial DNA (mtDNA) deletions and single nucleotide variants (SNVs) is a well-accepted facet of the biology of aging, yet comprehensive mutation spectra have not been described. To address this, we have used next generation sequencing of mtDNA-enriched libraries (Mito-Seq) to investigate mtDNA mutation spectra of putamen from young and aged donors. Frequencies of the "common" deletion and other "major arc" deletions were significantly increased in the aged cohort with the fold increase in the frequency of the common deletion exceeding that of major arc deletions. SNVs also increased with age with the highest rate of accumulation in the non-coding control region which contains elements necessary for translation and replication. Examination of predicted amino acid changes revealed a skew towards pathogenic SNVs in the coding region driven by mutation bias. Levels of the pathogenic m.3243A>G tRNA mutation were also found to increase with age. Novel multimeric tandem duplications that resemble murine control region multimers and yeast ρ(-) mtDNAs, were identified in both young and aged specimens. Clonal ∼50 bp deletions in the control region were found at high frequencies in aged specimens. Our results reveal the complex manner in which the mitochondrial genome alters with age and provides a foundation for studies of other tissues and disease states.
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