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Article

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Nature cell biology - 1 Feb 2018

Floros Vasileios I, Pyle Angela, Dietmann Sabine, Wei Wei, Tang Walfred C W, Irie Naoko, Payne Brendan, Capalbo Antonio, Noli Laila, Coxhead Jonathan, Hudson Gavin, Crosier Moira, Strahl Henrik, Khalaf Yacoub, Saitou Mitinori, Ilic Dusko, Surani M Azim, Chinnery Patrick F

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not clear1,2. Here we show that mtDNA mutations are present in primordial germ cells (PGCs) within healthy female human embryos. Isolated PGCs have a profound reduction in mtDNA content, with discrete mitochondria containing ~5 mtDNA molecules. Single-cell deep...

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Identifiers

PMID: 29335530
DOI: 10.1038/s41556-017-0017-8
PMCID: PMC6551220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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