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Article

Modulating mitochondrial DNA mutations: factors shaping heteroplasmy in the germ line and somatic cells.

Pharmacological research - 1 Nov 2022

Chiaratti Marcos R, Chinnery Patrick F

Abstract excerpt

Until recently it was thought that most humans only harbor one type of mitochondrial DNA (mtDNA), however, deep sequencing and single-cell analysis has shown the converse - that mixed populations of mtDNA (heteroplasmy) are the norm. This is important because heteroplasmy levels can change dramatically during transmission in the female germ line, leading to high levels causing severe mitochondrial diseases. There...

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PMID: 36174964
DOI: 10.1016/j.phrs.2022.106466

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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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