Mechanisms of Mitochondrial DNA Deletion Formation

Nadee Nissanka, Michal Minczuk, Carlos T. Moraes

Research output: Contribution to journalReview articlepeer-review

22 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)235-244
Number of pages10
JournalTrends in Genetics
Issue number3
StatePublished - Mar 2019


  • double-strand breaks
  • mitochondrial DNA
  • mitochondrial DNA deletions
  • replication

ASJC Scopus subject areas

  • Genetics


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