Article

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

2026-05-07

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 phenotype as well as disease severity and penetrance. Bulk RNA sequencing is not able to detect cell-to-cell variability in heteroplasmy, limiting our understanding of mitochondrial pathological mechanisms. In this study, we leverage single-cell...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5ecabfcd-c397-5a04-8da4-792290f9135e
DOI: 10.64898/2026.05.06.26352529

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell TranscriptomicsDOI 10.64898/2026.05.06.26352529Read

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

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.Semantic proximity Read

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.Semantic proximity Read

Single-cell multi-omics resolved analysis of mitochondrial genome-wide mutational burden, constraint, and mosaicismSemantic proximity Read

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells.Semantic proximity Read

Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial diseaseSemantic proximity Read

A bioinformatics pipeline for identifying homoplasmic and heteroplasmic mitochondrial DNA SNVs in single-cell RNA-Seq datasets.Semantic proximity Read

Detection methods for mitochondrial DNA heteroplasmy and their potential single-cell applications in cancer.Semantic proximity Read

Mitochondrial genetics through the lens of single-cell multi-omics.Semantic proximity Read

Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling.Semantic proximity Read

Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing.Semantic proximity Read

Stable heteroplasmy at the single cell level is facilitated by inter-cellular exchange of mtDNASemantic proximity Read