Article
High-throughput single-cell analysis reveals progressive mitochondrial DNA mosaicism throughout life.
Science advances - 27 Oct 2023
Glynos Angelos, Bozhilova Lyuba V, Frison Michele, Burr Stephen, Stewart James B, Chinnery Patrick F
Abstract excerpt
Heteroplasmic mitochondrial DNA (mtDNA) mutations are a major cause of inherited disease and contribute to common late-onset human disorders. The late onset and clinical progression of mtDNA-associated disease is thought to be due to changing heteroplasmy levels, but it is not known how and when this occurs. Performing high-throughput single-cell genotyping in two mouse models of human mtDNA disease, we saw...
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