Genetics of parkinsonism
Genetics of parkinsonism
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DOI：
10.1016/s1353-8020(08)70008-7
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发表时间：
2007-01-01
影响因子：
4.1
通讯作者：
Bonifati, Vincenzo
中科院分区：
文献类型：
--
作者：
Bonifati, Vincenzo
十年前，α -突触核蛋白突变被发现是帕金森病（PD）的第一个遗传原因。在接下来的几年里，连锁定位和定位克隆研究进一步揭示了parkin、DJ-1、PINK1、LRRK2和ATP13A2基因的高渗透（孟德尔式）pd引起突变，描绘了一个高度异质性的病因情景。也许更重要的是，低外显率LRRK2突变（Gly2019Ser）和α -突触核蛋白和LRRK2的多态性变异正在成为一些人群中散发性PD的相关遗传决定因素。其他孟德尔基因仍有待发现，但对常见PD形式的遗传结构的完全解决是未来十年的主要挑战。(C) 2007 Elsevier B.V.版权所有
Ten years ago, alpha-synuclein mutations were discovered as the first genetic cause of Parkinson's disease (PD). In the following years, linkage mapping and positional cloning Studies revealed further highly-penetrant (Mendelian) PD-causing mutations in the parkin, DJ-1, PINK1, LRRK2, and ATP13A2 genes, delineating a highly heterogeneous etiological scenario. Perhaps even more importantly, a low-penetrance LRRK2 Mutation (Gly2019Ser) and polymorphic variants in alpha-synuclein and LRRK2 are emerging as relevant genetic determinants for sporadic PD in several populations. Other Mendelian genes remain to be found, but the complete resolution of the genetic architectures of the common PD forms represents the main challenge for the next decade. (C) 2007 Elsevier B.V. All rights reserved.