Genetic Architecture of Parkinson's Disease

被引:2
|
作者
Shadrina, Maria I. I. [1 ]
Slominsky, Petr A. A. [1 ]
机构
[1] Kurchatov Inst Natl Res Ctr, Inst Mol Genet, Moscow 123182, Russia
基金
俄罗斯科学基金会;
关键词
Parkinson's disease; monogenic form; sporadic form; genetics; mutation analysis; genome-wide association analysis; epigenetics; genetic risk; DOPAMINERGIC NEURONAL LOSS; S18Y POLYMORPHIC VARIANT; GENOME-WIDE ASSOCIATION; MUTATION ANALYSIS; UCH-L1; METAANALYSIS; EXPRESSION; FREQUENCY; MECHANISMS; PENETRANCE;
D O I
10.1134/S0006297923030100
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Year 2022 marks 25 years since the first mutation in familial autosomal dominant Parkinson's disease was identified. Over the years, our understanding of the role of genetic factors in the pathogenesis of familial and idiopathic forms of Parkinson's disease has expanded significantly - a number of genes for the familial form of the disease have been identified, and DNA markers for an increased risk of developing its sporadic form have been found. But, despite all the success achieved, we are far from an accurate assessment of the contribution of genetic and, even more so, epigenetic factors to the disease development. The review summarizes the information accumulated to date on the genetic architecture of Parkinson's disease and formulates issues that need to be addressed, which are primarily related to the assessment of epigenetic factors in the disease pathogenesis.
引用
收藏
页码:417 / 433
页数:17
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