LRRK2与帕金森病

被引：9

作者：

张婷

曹立

陈生弟

机构：

[1] 上海交通大学医学院附属瑞金医院神经内科

来源：

国际神经病学神经外科学杂志 | 2007年 / 05期

关键词：

帕金森病; LRRK2; 突变; 蛋白激酶;

D O I：

10.16636/j.cnki.jinn.2007.05.020

中图分类号：

R742.5 [震颤麻痹综合征];

学科分类号：

100204 [神经病学];

摘要：

LRRK2基因是家族遗传性帕金森病8型(PARK8)的致病基因。其编码蛋白LRRK2具有蛋白激酶活性,GTP酶活性,并作为支架蛋白参与蛋白质相互作用。现发现20余个LRRK2基因突变与家族性及散发性帕金森病相关,突变携带者具有典型帕金森病临床表现。突变的LRRK2蛋白致帕金森病机制仍不十分明确,可能与蛋白激酶介导的细胞毒性,细胞凋亡,线粒体功能障碍,氧化应激及泛素蛋白酶体系统异常相关。LRRK2及其突变蛋白的功能确立具有潜在的临床治疗前景。

引用

页码：467 / 471

页数：5

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