Research progress of GBA1 variation and Parkinson′s disease
10.3760/cma.j.cn113694-20220927-00727
- VernacularTitle:GBA1基因变异与帕金森病研究进展
- Author:
Zhen ZENG
1
;
Jinghong MA
;
Piu CHAN
Author Information
1. 首都医科大学附属北京潞河医院神经内科，北京101199
- Keywords:
Parkinson disease;
GBA1 gene;
Glucocerebrosidase;
α-Synuclein
- From:
Chinese Journal of Neurology
2023;56(5):562-566
- CountryChina
- Language:Chinese
-
Abstract:
GBA1 is one of the common risk genes of Parkinson′s disease (PD), which encodes glucocerebrosidase. It is difficult to distinguish PD patients with heterozygous variants of GBA1 ( GBA1-PD) from idiopathic Parkinson′s disease patients, but GBA1-PD tends to progress faster, be more severe, and be more likely to be associated with cognitive impairment and other non-motor symptoms. The pathological mechanism of the increased risk of PD in GBA1 heterozygous variant carriers may be related to autophagy-lysosome dysfunction and mitochondrial dysfunction. Targeted therapy for GBA1 is expected to become a new direction of precision therapy for PD. In this article, the epidemiology and clinical features of GBA1-PD, the possible pathogenesis of GBA1 variation, and the therapeutic strategies for GBA1-PD were elaborated.
