黑质
致密部
孟德尔遗传
疾病
帕金森病
神经科学
LRRK2
遗传学
等位基因
生物
病理生理学
α-突触核蛋白
全基因组关联研究
神经退行性变
基因
医学
病理
基因型
内分泌学
单核苷酸多态性
作者
Gabriel E. Vázquez-Vélez,Huda Y. Zoghbi
出处
期刊:Annual Review of Neuroscience
[Annual Reviews]
日期:2021-07-08
卷期号:44 (1): 87-108
被引量:142
标识
DOI:10.1146/annurev-neuro-100720-034518
摘要
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in Lewy bodies. PD is caused by a combination of environmental factors and genetic variants. These variants range from highly penetrant Mendelian alleles to alleles that only modestly increase disease risk. Here, we review what is known about the genetics of PD. We also describe how PD genetics have solidified the role of endosomal, lysosomal, and mitochondrial dysfunction in PD pathophysiology. Finally, we highlight how all three pathways are affected by α-synuclein and how this knowledge may be harnessed for the development of disease-modifying therapeutics.
科研通智能强力驱动
Strongly Powered by AbleSci AI