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Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics.

Cells - 3 Aug 2026

Barresi Marco, Di Meo Ivano, Nasca Alessia, Lamantea Eleonora, Legati Andrea, Ghezzi Daniele

Abstract excerpt

Mitochondrial DNA (mtDNA) heteroplasmy, which is the coexistence of wild-type and mutant mtDNA variants within the same cell, plays a critical role in modulating cellular phenotypes, disease severity, and penetrance. Bulk RNA sequencing cannot detect cell-to-cell heteroplasmy variability, limiting our understanding of the pathological mechanisms of mtDNA variants. In this study, we leveraged single-cell RNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42587811
DOI: 10.3390/cells15151403
PMCID: PMC13464780

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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