Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillance.

doi:10.1016/j.mito.2025.102081

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Article

Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillance.

Mitochondrion - 1 Nov 2025

Nakamura Kohta, Sato Yasunari, Hashimoto Masao, Matsumoto Naoyuki, Nitta Sachiko, Okazaki Yasushi, Miyoshi Yasuo, Nagase Hiroki

Abstract excerpt

Mitochondrial genome diversity in normal tissues remains poorly understood due to 100 to 1000 copies of mitochondrial DNA in a cell. This study analyzed mitochondrial DNA variants in two distant sites of normal skin tissues from 119 breast surgery cases using deep sequencing. We identified 1337 variants across the mitochondrial genome (59.1 % in coding region). Intriguingly variants were categorized two groups,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40935056
DOI: 10.1016/j.mito.2025.102081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.