Mechanisms of Mitochondrial DNA Deletion Formation.

TitleMechanisms of Mitochondrial DNA Deletion Formation.
Publication TypeJournal Article
Year of Publication2019
AuthorsNissanka, N, Minczuk, M, Moraes, CT
JournalTrends Genet
Date Published2019 Mar

Mitochondrial DNA (mtDNA) encodes a subset of genes which are essential for oxidative phosphorylation. Deletions in the mtDNA can ablate a number of these genes and result in mitochondrial dysfunction, which is associated with bona fide mitochondrial disorders. Although mtDNA deletions are thought to occur as a result of replication errors or following double-strand breaks, the exact mechanism(s) behind deletion formation have yet to be determined. In this review we discuss the current knowledge about the fate of mtDNA following double-strand breaks, including the molecular players which mediate the degradation of linear mtDNA fragments and possible mechanisms of recircularization. We propose that mtDNA deletions formed from replication errors versus following double-strand breaks can be mediated by separate pathways.

Alternate JournalTrends Genet.
Citation Key10.1016/j.tig.2019.01.001
PubMed ID30691869