Integration of functional genomics data to uncover cell type-specific pathways affected in Parkinson's disease.


Journal

Biochemical Society transactions
ISSN: 1470-8752
Titre abrégé: Biochem Soc Trans
Pays: England
ID NLM: 7506897

Informations de publication

Date de publication:
01 11 2021
Historique:
received: 24 06 2021
revised: 25 08 2021
accepted: 31 08 2021
pubmed: 29 9 2021
medline: 22 2 2022
entrez: 28 9 2021
Statut: ppublish

Résumé

Parkinson's disease (PD) is the second most prevalent late-onset neurodegenerative disorder worldwide after Alzheimer's disease for which available drugs only deliver temporary symptomatic relief. Loss of dopaminergic neurons (DaNs) in the substantia nigra and intracellular alpha-synuclein inclusions are the main hallmarks of the disease but the events that cause this degeneration remain uncertain. Despite cell types other than DaNs such as astrocytes, microglia and oligodendrocytes have been recently associated with the pathogenesis of PD, we still lack an in-depth characterisation of PD-affected brain regions at cell-type resolution that could help our understanding of the disease mechanisms. Nevertheless, publicly available large-scale brain-specific genomic, transcriptomic and epigenomic datasets can be further exploited to extract different layers of cell type-specific biological information for the reconstruction of cell type-specific transcriptional regulatory networks. By intersecting disease risk variants within the networks, it may be possible to study the functional role of these risk variants and their combined effects at cell type- and pathway levels, that, in turn, can facilitate the identification of key regulators involved in disease progression, which are often potential therapeutic targets.

Identifiants

pubmed: 34581766
pii: 229857
doi: 10.1042/BST20210128
pmc: PMC8589426
doi:

Substances chimiques

SNCA protein, human 0
alpha-Synuclein 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

2091-2100

Subventions

Organisme : Medical Research Council
Pays : United Kingdom

Informations de copyright

© 2021 The Author(s).

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Auteurs

Viola Volpato (V)

UK Dementia Research Institute, Cardiff University, Cardiff CF24 4HQ, U.K.

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