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Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing

Lookup NU author(s): Yasmin Tang, Dr Angela Pyle, Professor Robert Taylor, Dr Monika Olahova



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2021 by the authors. Licensee MDPI, Basel, Switzerland.Mitochondrial disease originates from genetic changes that impact human bodily functions by disrupting the mitochondrial oxidative phosphorylation system. MitoCarta is a curated and published inventory that sheds light on the mitochondrial proteome, but the function of some mitochondrially‐localised proteins remains poorly characterised. Consequently, various gene editing systems have been employed to uncover the involvement of these proteins in mitochondrial biology and disease. CRISPR/Cas9 is an efficient, versatile, and highly accurate genome editing tool that was first introduced over a decade ago and has since become an indispensable tool for targeted genetic manipulation in biological research. The broad spectrum of CRISPR/Cas9 applications serves as an attractive and tractable system to study genes and pathways that are essential for the regulation and maintenance of mitochondrial health. It has opened possibilities of generating reliable cell and animal models of human disease, and with further exploitation of the technology, large‐scale genomic screenings have uncovered a wealth of fundamental mechanistic insights. In this review, we describe the applications of CRISPR/Cas9 system as a genome editing tool to uncover new insights into pathomechanisms of mitochondrial diseases and/or biological processes involved in mitochondrial function.

Publication metadata

Author(s): Tang JX, Pyle A, Taylor RW, Olahova M

Publication type: Review

Publication status: Published

Journal: Genes

Year: 2021

Volume: 12

Issue: 10

Print publication date: 01/10/2021

Online publication date: 12/10/2021

Acceptance date: 09/10/2021

ISSN (electronic): 2073-4425

Publisher: MDPI


DOI: 10.3390/genes12101604