VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from Southwest China |
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Authors: | YongPing Chen Ke Chen Wei Song XuePing Chen Bei Cao Rui Huang Bi Zhao XiaoYan Guo JeanMarc Burgunder JianPeng Li Hui-Fang Shang |
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Institution: | 1. Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, China;2. Department of Neurology, University of Bern, Bern, Switzerland |
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Abstract: | The Asp620Asn mutation in the vacuolar protein sorting protein 35 (VPS35) gene and the Arg1205His mutation in the eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) gene were identified in autosomal dominant late-onset familial and sporadic Parkinson disease (PD) patients in a Caucasian population. However, the frequencies of these 2 mutations among Chinese PD patients are unknown. We examined these mutations in a large cohort consisting of 609 PD patients and 600 healthy control subjects from Southwest China. Our results suggest that the Asp620Asn mutation in VPS35 and the Arg1205His mutation in EIF4G1 do not play a role in PD in the Southwest China population. The novel Arg1205Cys mutation in EIF4G1 detected in the current study should be further studied among other Asian patients. |
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Keywords: | Parkinson disease VPS35 gene Asp620Asn mutation EIF4G1 gene Arg1205His mutation |
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