Yuan Lamei, Deng Xiong, Song Zhi, Yang Zhijian, Ni Bin, Chen Yong, Deng Hao
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Neurobiol Aging. 2015 Oct;36(10):2907.e11-2. doi: 10.1016/j.neurobiolaging.2015.06.019. Epub 2015 Jun 19.
Parkinson's disease (PD) is a common neurodegenerative disorder of complex etiology. Mounting evidence indicates that genetic abnormalities play an important role in the pathogenesis of PD. To date, at least 20 genetic loci and 15 disease-causing genes for parkinsonism have been identified, as well as some susceptibility genes conferring risk to PD. More recently, mutations in the RAB39B gene (RAB39B, member RAS oncogene family) have been reported to cause X-linked intellectual disability and early-onset PD with α-synuclein pathology. To evaluate whether variants in the RAB39B gene are related to PD in Chinese Han population, we conducted genetic analysis of the RAB39B gene in 502 patients with PD from Mainland China. No pathogenic mutation or variant was identified in the coding region or exon-intron boundaries of the gene. Our results suggest that mutation(s) in the coding region of the RAB39B gene plays little or no role in the development of PD in Chinese population.
帕金森病（PD）是一种病因复杂的常见神经退行性疾病。越来越多的证据表明，基因异常在帕金森病的发病机制中起着重要作用。迄今为止，已鉴定出至少20个帕金森病相关基因位点和15个帕金森综合征致病基因，以及一些增加帕金森病发病风险的易感基因。最近，有报道称RAB39B基因（RAB39B，RAS癌基因家族成员）的突变可导致X连锁智力障碍和伴有α-突触核蛋白病理改变的早发性帕金森病。为了评估RAB39B基因变异是否与中国汉族人群的帕金森病相关，我们对来自中国大陆的502例帕金森病患者进行了RAB39B基因的遗传分析。在该基因的编码区或外显子-内含子边界未发现致病突变或变异。我们的结果表明，RAB39B基因编码区的突变在中国人群帕金森病的发生中作用很小或没有作用。
Zotero 插件