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Rewiring cell signalling pathways in pathogenic mtDNA mutations

Chung, C-Y; Valdebenito, GE; Chacko, AR; Duchen, MR; (2021) Rewiring cell signalling pathways in pathogenic mtDNA mutations. Trends in Cell Biology 10.1016/j.tcb.2021.10.005. (In press). Green open access

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Abstract

Mitochondria generate the energy to sustain cell viability and serve as a hub for cell signalling. Their own genome (mtDNA) encodes genes critical for oxidative phosphorylation. Mutations of mtDNA cause major disease and disability with a wide range of presentations and severity. We review here an emerging body of data suggesting that changes in cell metabolism and signalling pathways in response to the presence of mtDNA mutations play a key role in shaping disease presentation and progression. Understanding the impact of mtDNA mutations on cellular energy homeostasis and signalling pathways seems fundamental to identify novel therapeutic interventions with the potential to improve the prognosis for patients with primary mitochondrial disease.

Type: Article
Title: Rewiring cell signalling pathways in pathogenic mtDNA mutations
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.tcb.2021.10.005
Publisher version: https://doi.org/10.1016/j.tcb.2021.10.005
Language: English
Additional information: © 2021 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords: cell signalling, heteroplasmy, metabolic remodelling, mitochondrial disease, mtDNA
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology
URI: https://discovery.ucl.ac.uk/id/eprint/10139459
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