Genetic analysis of the LRP10 gene in Chinese patients with Parkinson's disease.
Neurol Sci
; 44(3): 905-912, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-36434476
ABSTRACT
BACKGROUND:
Parkinson's disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor-related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.METHODS:
We sequenced the full coding regions and exon-intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.RESULTS:
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.CONCLUSION:
According to our study, the LRP10 gene may attribute to PD pathogenesis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteínas Relacionadas a Receptor de LDL
Limite:
Humans
Idioma:
En
Revista:
Neurol Sci
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China