As we age, our cells acquire DNA mutations, resulting in cell-to-cell genomic heterogeneity. We characterized the landscape of mitochondrial DNA (mtDNA) heterogeneity in healthy human cells. Our observations provide deeper insight into the frequency of new mitochondrial mutations and the mechanisms that propagate low-level mutations in mtDNA over a lifetime.
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References
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This is a summary of: An, J. et al. Mitochondrial DNA mosaicism in normal human somatic cells. Nat. Genet. https://doi.org/10.1038/s41588-024-01838-z (2024).
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Unravelling the origins and forces that shape mtDNA mutations in human cells. Nat Genet 56, 1554–1555 (2024). https://doi.org/10.1038/s41588-024-01837-0
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DOI: https://doi.org/10.1038/s41588-024-01837-0
