ArticleJournal of medical genetics2007
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 69 citations in OpenAlex.
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- Evolution and maintenance of mtDNA gene content across eukaryotes.The Biochemical journal · 2024Review
- Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging.BMJ case reports · 2024Article
- T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.Life science alliance · 2023Article
- Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.Human molecular genetics · 2022Article
- Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.Science advances · 2021Article
- The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS letters · 2021Review
- Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.The New England journal of medicine · 2020Article
- MtDNA sequence features associated with 'selfish genomes' predict tissue-specific segregation and reversion.Nucleic acids research · 2020Article
- The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.Molecular genetics & genomic medicine · 2020Article
- Evolving mtDNA populations within cells.Biochemical Society transactions · 2019Review
- Heteroplasmy concordance between mitochondrial DNA and RNA.Scientific reports · 2019Article
- Darwinian selection within an individual or somatic selection: facts and models.Journal of molecular cell biology · 2019Article
- Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality.Scientific reports · 2018Article
- mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.EMBO molecular medicine · 2018Article
- Evolution of Cell-to-Cell Variability in Stochastic, Controlled, Heteroplasmic mtDNA Populations.American journal of human genetics · 2016Article
- Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.The journals of gerontology. Series A, Biological sciences and medical sciences · 2015Article
- Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundThe 3243A-->G MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. OBJECTIVES AND
methodTo understand the dynamics of the process and the underlying mechanisms, an accurate fluorescent assay was established for 3243A-->G heteroplasmy and the amount of mtDNA in blood with real-time polymerase chain reaction was determined. The amount of mutated and wild-type mtDNA was measured at two time points in 11 subjects.
resultsThe percentage of mutated mtDNA decreases exponentially during life, and peripheral blood leucocytes in patients harbouring 3243A-->G are profoundly depleted of mtDNA.
conclusionsA similar decrease in mtDNA has been seen in other mitochondrial disorders, and in 3243A-->G cell lines in culture, indicating that depletion of mtDNA may be a common secondary phenomenon in several mitochondrial diseases. Depletion of mtDNA is not always due to mutation of a nuclear gene involved in mtDNA maintenance.
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