Rewiring cell signalling pathways in pathogenic mtDNA mutations

Autor:	Chih-Yao Chung, Michael R. Duchen, Gabriel E. Valdebenito, Anitta R. Chacko
Rok vydání:	2022
Předmět:	Genetics Mitochondrial DNA Cell signaling Mitochondrial Diseases Mitochondrial disease Cell Biology Oxidative phosphorylation Mitochondrion Biology medicine.disease DNA Mitochondrial Genome Oxidative Phosphorylation Heteroplasmy Mitochondria Mutation medicine Humans Gene
Zdroj:	Trends in Cell Biology. 32:391-405
ISSN:	0962-8924
DOI:	10.1016/j.tcb.2021.10.005
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8513009c129d3b8ecca87fd352158d68 https://doi.org/10.1016/j.tcb.2021.10.005 Zobrazit plný text záznamu Full Text from ScienceDirect