Molecular genetics of Parkinson's disease: Contributions and global trends.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
18
03
2022
accepted:
20
06
2022
revised:
31
05
2022
pubmed:
14
7
2022
medline:
3
3
2023
entrez:
13
7
2022
Statut:
ppublish
Résumé
Parkinson's disease (PD) is a neurodegenerative disorder primarily characterized by motor dysfunction. Aging is the greatest risk factor for developing PD. Recent molecular genetic studies have revealed that genetic factors, in addition to aging and environmental factors, play an important role in the development of the disorder. Studies of familial PD have identified approximately 20 different causative genes. PRKN is the most frequently detected causative gene in Japan. The PRKN gene is located at a common fragile site, and both copy number variants as well as single nucleotide variants are frequently detected. The location and variety of variant types makes an accurate genetic diagnosis difficult with conventional genetic testing. In sporadic PD, genome-wide association studies have revealed more than 200 genes that are potential drivers for the development of PD. Many of these studies have been conducted in Caucasian populations alone, which has limited the identification of all genetic risk factors for sporadic PD, particularly as genetic backgrounds vary widely by race. The Global Parkinson's Genetics Program is a global undertaking meant to address the issue of regional differences in genetic studies of PD.
Identifiants
pubmed: 35821405
doi: 10.1038/s10038-022-01058-5
pii: 10.1038/s10038-022-01058-5
pmc: PMC9968657
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
125-130Subventions
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : 19K08003
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : 21K07283
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : 18H04043
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : 21H04820
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : 21ak0101125h0002
Informations de copyright
© 2022. The Author(s).
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