LRRK2基因突变与帕金森病关联性研究  

Correlation between Mutations in the LRRK2 and Parkinson′s Disease

作　　者：卢红腾[1] 马琪林[1] 安星凯[2] 

机构地区：[1]福建医科大学第一临床医学院,福州350009 [2]厦门市第一医院神经内科,福建厦门361003

出　　处：《医学综述》2012年第22期3736-3739,共4页Medical Recapitulate

基　　金：福建省卫生厅青年科研课题(2009-2-72);福建省自然科学基金面上项目(2009D001)

摘　　要：帕金森病(PD)是一种常见的中枢神经系统退行性疾病,主要病变部位在黑质及纹状体,临床上以静止性震颤、肌强直、动作迟缓和姿势反射障碍为主要特征,其发病机制迄今不明,但大多数学者认为遗传因素在PD发病过程中起着重要作用。LRRK2基因突变是家族聚集性常染色体显性遗传性PD最常见的原因,随后的研究发现,它可能在散发性PD的发病中也起一定作用。现对LRRK2基因结构特征、生物学功能及其位点突变后导致PD的分子机制进行综述,为PD的分子研究提供参考。Parkinson disease（PD）is a common degenerative disease of the central nervous system,mainly involving substantia nigra and striatum.The disease is progressive and characterized clinically by resting tremor,bradykinesia,rigidity and postural instability.Although the causes of the disease have remained obscure until now,genetic factor plays an important role in the pathogenesis of PD.Mutations in leucine-rich repeat kinase 2（LRRK2）are by far the most common genetic causes for familial autosomal dominant PD.Subsequently,LRRK2 gene may play a significant role in sporadic PD.Here is to summarize the characteristics of LRRK2 gene structure,biological functions,molecular mechanisms of point mutation,to provide reference for PD molecular study.

关 键 词：帕金森病 LRRK2基因 基因突变 

分 类 号：R741.02[医药卫生—神经病学与精神病学]