Modulating Heteroplasmy

Overview

Journal Trends Genet

Specialty Genetics

Date 2002 Apr 5

PMID 11932010

Citations 11

Authors

Patrick F Chinnery

Affiliations

Soon will be listed here.

Abstract

Patients with mitochondrial DNA (mtDNA) disease usually harbor a mixture of mutant and wild-type mtDNA (a state termed heteroplasmy), and the clinical features of the disease depend on the percentage of mutant mtDNA (the "mutation load") in vulnerable tissues. Factors that modulate the mutation load are poorly understood, but recent work has started to unravel the mechanisms. In certain circumstances heteroplasmy might be regulated at the level of the individual mitochondrial genome.

Citing Articles

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Lujan S, Longley M, Humble M, Lavender C, Burkholder A, Blakely E Genome Biol. 2020; 21(1):248.

PMID: 32943091 PMC: 7500033. DOI: 10.1186/s13059-020-02138-5.

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA.

Malena A, Pantic B, Borgia D, Sgarbi G, Solaini G, Holt I Autophagy. 2016; 12(11):2098-2112.

PMID: 27627835 PMC: 5103342. DOI: 10.1080/15548627.2016.1226734.

Altered Mitochondrial Function, Mitochondrial DNA and Reduced Metabolic Flexibility in Patients With Diabetic Nephropathy.

Czajka A, Ajaz S, Gnudi L, Parsade C, Jones P, Reid F EBioMedicine. 2015; 2(6):499-512.

PMID: 26288815 PMC: 4534759. DOI: 10.1016/j.ebiom.2015.04.002.

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Raap A, Jahangir Tafrechi R, van de Rijke F, Pyle A, Wahlby C, Szuhai K PLoS One. 2012; 7(12):e52080.

PMID: 23272214 PMC: 3525564. DOI: 10.1371/journal.pone.0052080.

Site heteroplasmy in the mitochondrial cytochrome b gene of the sterlet sturgeon Acipenser ruthenus.

Dudu A, Georgescu S, Berrebi P, Costache M Genet Mol Biol. 2012; 35(4):886-91.

PMID: 23271951 PMC: 3526098. DOI: 10.1590/S1415-47572012005000058.