GBA基因与帕金森病关联机制的探讨_方艳博.pdf

·学术探讨· DOI:10.13276/j.issn.1674-8913.2015.01.009 GBA基因与帕金森病关联机制的探讨 1 1,2 1,2 1 方艳博 ，范成河 ，王雪晶 ，滕军放 1 2 （郑州大学第一附属医院：神经内二科， 河南省高等学校重点学科开放实验室，河南 郑州 450052） Possible correlation mechanisms between GBA gene and Parkinsonism 1 1,2 1,2 1 FANG Yan-Bo , FAN Cheng-He , WANG Xue-Jing , TENG Jun-Fang 1Department of Neurology, 2Institute of Clinical Medicine, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China Abstract Mutations in the glucocerebrosidase (GBA) gene may result in Gaucher’s disease (GD), which is autosomal 【 】 recessive lysosomal lipid storage disorder characterized by the deficiency of the enzyme glucocerebrosidase. A number of clinical, genetic and pathological studies demonstrated that mutations in GBA are an important and common risk factor for Parkinson’s disease (PD). Clinical observations showed that the patients with GD and their relatives had a higher probability of developing PD than control individuals and that the patients with PD had an increased frequency of GBA mutations when compared with the controls. Elucidating the link between GBA gene and Parkinsonism will help us to better understand PD and provide new insights into PD and potential treatment strategies. Keywords glucocerebrosidase gene; Parkinson’s disease; α-synuclein 【 】 【摘 要】 葡萄糖脑苷脂酶基因（GBA）突变可导致戈谢病（GD），即一种常染色体隐性遗传的代谢障碍性疾 病。大量临床、遗传和病理研究都证实GBA突变是帕金森病（PD）的十分重要又常见的危险因素。临床观察发现 GD患者及其亲属发展为PD的概率要高于其他人群，且PD患者携带有GBA突变的频率大大增加。因此，阐明二者 之间关联的机制将提高我们对PD这种常见的神经系统退行性疾病的认识，从而为其治疗提出新的见解和策略。