Article
MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy.
Nature structural & molecular biology - 1 Apr 2026
Burr Stephen P, Auckland Kathryn, Glynos Angelos, Dhawanjewar Abhilesh, Ryall Cameron, Wei Wei, Hynes-Allen Antony, Prater Malwina, Sczaniecka-Clift Matylda, Prudent Julien, Chinnery Patrick F, van den Ameele Jelle
Abstract excerpt
Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is under strict control by the cell nucleus. mtDNA occurs in many copies per cell and mutations often only affect a proportion of them, giving rise to heteroplasmy. mtDNA copy number and heteroplasmy level together shape the tissue-specific impact of mtDNA mutations, eventually giving rise to both rare mitochondrial and common...
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