Manipulation of mitochondrial genes and mtDNA heteroplasmy

Bacman, S. R., Gammage, P.A. , Minczuk, M. and Moraes, C.T. (2020) Manipulation of mitochondrial genes and mtDNA heteroplasmy. In: Pon, L. A. and Schon, E. A. (eds.) Mitochondira. 3rd Edition. Series: Methods in cell biology. Academic Press: Amsterdam, pp. 441-487. ISBN 9780128202289 (doi: 10.1016/bs.mcb.2019.12.004)

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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.

Item Type:Book Sections
Glasgow Author(s) Enlighten ID:Gammage, Dr Payam
Authors: Bacman, S. R., Gammage, P.A., Minczuk, M., and Moraes, C.T.
College/School:College of Medical Veterinary and Life Sciences > School of Cancer Sciences
Publisher:Academic Press
Published Online:20 January 2020

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