A genome on shaky ground: exploring the impact of mitochondrial DNA integrity on Parkinson's disease by highlighting the use of cybrid models.
Cybrids
Mitochondria
Mitochondrial genome
Parkinson’s disease
mtDNA
Journal
Cellular and molecular life sciences : CMLS
ISSN: 1420-9071
Titre abrégé: Cell Mol Life Sci
Pays: Switzerland
ID NLM: 9705402
Informations de publication
Date de publication:
05 May 2022
05 May 2022
Historique:
received:
11
02
2022
accepted:
12
04
2022
revised:
01
04
2022
entrez:
5
5
2022
pubmed:
6
5
2022
medline:
10
5
2022
Statut:
epublish
Résumé
Mitochondria play important roles in the regulation of key cellular processes, including energy metabolism, oxidative stress response, and signaling towards cell death or survival, and are distinguished by carrying their own genome (mtDNA). Mitochondrial dysfunction has emerged as a prominent cellular mechanism involved in neurodegeneration, including Parkinson's disease (PD), a neurodegenerative movement disorder, characterized by progressive loss of dopaminergic neurons and the occurrence of proteinaceous Lewy body inclusions. The contribution of mtDNA variants to PD pathogenesis has long been debated and is still not clearly answered. Cytoplasmic hybrid (cybrid) cell models provided evidence for a contribution of mtDNA variants to the PD phenotype. However, conclusive evidence of mtDNA mutations as genetic cause of PD is still lacking. Several models have shown a role of somatic, rather than inherited mtDNA variants in the impairment of mitochondrial function and neurodegeneration. Accordingly, several nuclear genes driving inherited forms of PD are linked to mtDNA quality control mechanisms, and idiopathic as well as familial PD tissues present increased mtDNA damage. In this review, we highlight the use of cybrids in this PD research field and summarize various aspects of how and to what extent mtDNA variants may contribute to the etiology of PD.
Identifiants
pubmed: 35513611
doi: 10.1007/s00018-022-04304-3
pii: 10.1007/s00018-022-04304-3
pmc: PMC9072496
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
283Subventions
Organisme : Autonomous Province of Bolzano (IT)
ID : D54I18000150003
Organisme : Autonomous Province of Bolzano (IT)
ID : core funding initiative to Eurac Institute for Biomedicine
Organisme : Deutsche Forschungsgemeinschaft
ID : FOR2488
Organisme : Deutsche Forschungsgemeinschaft
ID : FOR2488
Organisme : Deutsche Forschungsgemeinschaft
ID : FOR2488
Informations de copyright
© 2022. The Author(s).
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