EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease

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• 作者：Lamei Yuan^a ; Zhi Song^b ; Hongbo Xu^a ; Shaojuan Gu^a ; ^b ; Anding Zhu^b ; Lina Gong^b ; Yongxiang Zhao^c ; ^{yongxiang_zhao@126.com} ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com}
• 关键词：Parkinson disease ; Eukaryotic translation initiation factor 4-gamma 1 gene ; p.Ala502Val ; p.Arg1205His ; Variant
• 刊名：Neuroscience Letters
• 出版年：2013
• 出版时间：24 May, 2013
• 年：2013
• 卷：543
• 期：Complete
• 页码：69-71
• 全文大小：411 K

文摘

Growing evidences show that genetic abnormalities play an important role in the etiopathogenesis of Parkinson disease (PD). At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. Recently, the p.Ala502Val and p.Arg1205His variants in the eukaryotic translation initiation factor 4-gamma 1 gene (EIF4G1) were found to be associated with PD. To evaluate whether the EIF4G1 p.Ala502Val and p.Arg1205His variants are related to PD in Chinese Han population, we conducted genetic examination of these two variants in 425 PD patients from Mainland China and none was found in our patients. We did identify a known non-pathogenic polymorphism c.3660C>T (p.Ala1220Ala, rs143852330) in a 73-year-old male patient. Our results, consistent with other recent reports, suggest that the EIF4G1 p.Ala502Val and p.Arg1205His variants are a rare cause of PD, at least in Chinese population.