Manipulation of mitochondrial genes and mtDNA heteroplasmy

Sandra R. Bacman, P. A. Gammage, M. Minczuk, Carlos T. Moraes

Research output: Chapter in Book/Report/Conference proceedingChapter

5 Scopus citations


Most patients with mitochondrial DNA (mtDNA) mutations have a mixture of mutant and wild-type mtDNA in their cells. This phenomenon, known as mtDNA heteroplasmy, provides an opportunity to develop therapies by selectively eliminating the mutant fraction. In the last decade, several enzyme-based gene editing platforms were developed to cleave specific DNA sequences. We have taken advantage of these enzymes to develop reagents to selectively eliminate mutant mtDNA. The replication of intact mitochondrial genomes normalizes mtDNA levels and consequently mitochondrial function. In this chapter, we describe the methodology used to design and express these nucleases in mammalian cells in culture and in vivo.

Original languageEnglish (US)
Title of host publicationMitochondria, 3rd Edition
EditorsLiza A. Pon, Eric A. Schon
PublisherAcademic Press Inc.
Number of pages47
ISBN (Print)9780128202289
StatePublished - 2020

Publication series

NameMethods in Cell Biology
ISSN (Print)0091-679X


  • Gene therapy
  • Heteroplasmy
  • Mitochondrial diseases
  • mitoTALEN
  • mtDNA
  • mtZFN

ASJC Scopus subject areas

  • Cell Biology


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