title: VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China.
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.
authors.affiliation: Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, China.
authors.forename: YongPing
authors.initials: Y
authors.lastname: Chen
authors.forename: Ke
authors.initials: K
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Song
authors.forename: XuePing
authors.initials: X
authors.lastname: Chen
authors.forename: Bei
authors.initials: B
authors.lastname: Cao
authors.forename: Rui
authors.initials: R
authors.lastname: Huang
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.forename: XiaoYan
authors.initials: X
authors.lastname: Guo
authors.forename: JeanMarc
authors.initials: J
authors.lastname: Burgunder
authors.forename: JianPeng
authors.initials: J
authors.lastname: Li
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005260:Female; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins; D001224:Aspartic Acid; D006639:Histidine; D001216:Asparagine; D001120:Arginine