Article

T cell differentiation drives the negative selection of pathogenic mtDNA variants

2023-04-28

Abstract excerpt

Pathogenic mitochondrial (mt)DNA single nucleotide variants are the most common cause of adult mitochondrial disease. Whilst levels of the most common heteroplasmic variant (m.3243A>G) remain stable in post-mitotic tissues, levels in mitotic tissues, such as blood, decrease with age. Given differing division rates, longevity and energetic requirements within haematopoietic lineages, we hypothesised that variant le...

Topics

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

Identifiers and source

Literature Corpus work: 7e6caded-5035-587f-9424-1b4a5138adb0
DOI: 10.1101/2023.04.26.23289145

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

T cell differentiation drives the negative selection of pathogenic mtDNA variantsDOI 10.1101/2023.04.26.23289145Read

T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variantsSemantic 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-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cellsSemantic proximity Read

A genetic bottleneck of mitochondrial DNA during human lymphocyte developmentSemantic proximity Read

A Genetic Bottleneck of Mitochondrial DNA During Human Lymphocyte Development.Semantic proximity Read

Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations.Semantic proximity Read

Mitochondrial variant enrichment from high-throughput single-cell RNA-seq resolves clonal populationsSemantic proximity Read

High-frequency and functional mitochondrial DNA mutations at the single-cell level.Semantic proximity Read

Mechanism of age-related accumulation of mtDNA mutations in human blood.Semantic proximity Read

Mitochondrial mutation, drift and selection during human development and ageingSemantic proximity Read

Large-scale single-cell mapping of concealed mitochondrial ageingSemantic proximity Read

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Semantic proximity Read