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Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivo.

Developmental cell - 13 May 2026

Chandrasegaram Rajini, Gottardo Sara, Dhawanjewar Abhilesh, Hynes-Allen Antony M, Gao Beitong, Chowdhury Suvagata Roy, Tábara Luis-Carlos, Frison Michele, Petridi Stavroula, Chinnery Patrick F, Prudent Julien, Ma Hansong, van den Ameele Jelle

Abstract excerpt

Mitochondrial DNA (mtDNA) exists in many copies per cell, with cell-to-cell variability in mutation load, which is known as heteroplasmy. Developmental and age-related expansion of heteroplasmic mtDNA mutations contributes to the pathogenesis of mitochondrial and neurodegenerative diseases. Here, we describe an approach for in situ sequence-specific detection of single mtDNA molecules (mtDNA-single-molecule...

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PMID: 42127801
DOI: 10.1016/j.devcel.2026.03.011

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