ArticleJournal of inherited metabolic disease2024
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
Article in Journal of inherited metabolic disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity.Neurology. Genetics · 2026Article
- Tipping the balance: innate and adaptive immunity in mitochondrial disease.Current opinion in immunology · 2025Review
- Selfish mutations promote age-associated erosion of mtDNA integrity in mammals.Nature communications · 2025Article
- Disruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome.PloS one · 2025Article
- Selection promotes age-dependent degeneration of the mitochondrial genome.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
6 authors.
Funding
Abstract
T cells have been shown to maintain a lower percentage (heteroplasmy) of the pathogenic m.3243A>G variant (MT-TL1, associated with maternally inherited diabetes and deafness [MIDD] and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [MELAS]). The mechanism(s) underlying this purifying selection, however, remain unknown. Here we report that purified patient memory CD4+ T cells have lower bulk m.3243A>G heteroplasmy compared to naïve CD4+ T cells. In vitro activation of naïve CD4+ m.3243A>G patient T cells results in lower bulk m.3243A>G heteroplasmy after proliferation. Finally, m.3243A>G patient T cell receptor repertoire sequencing reveals relative oligoclonality compared to controls. These data support a role for T cell activation in peripheral, purifying selection against high m.3243A>G heteroplasmy T cells at the level of the cell, in a likely cell-autonomous fashion.
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