title: VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians.
abstract: Mutations in 2 genes, vacuolar protein sorting homolog 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1), have been recently reported as causal in autosomal dominant Parkinson's disease (PD) among Caucasians. Their contribution to PD in other ethnic groups remains limited with 1% of VPS35 mutations observed in Caucasian and Japanese populations, but none in Chinese, and 11.57% of EIF4G1 mutations in Caucasian families and 0.09% and 0.17% in Caucasian and Chinese sporadic cases, respectively. We investigated the contribution, if any, of these 2 genes to familial and sporadic PD among the ethnically distinct Indian population. Complete exonic regions of these 2 genes were resequenced in 15 well-characterized PD families; the reported p.Asp620Asn in VPS35 and p.Arg1205His in EIF4G1 mutations were screened in an additional 54 familial and 251 sporadic PD cases, and no mutations were observed. These results, together with our previous reports on the absence of mutations in SNCA and LRRK2, warrant a continuing search for novel causative genes for PD among Indians.
authors.affiliation: Department of Genetics, University of Delhi South Campus, New Delhi, India.
authors.forename: Sumedha
authors.initials: S
authors.lastname: Sudhaman
authors.forename: Madhuri
authors.initials: M
authors.lastname: Behari
authors.forename: Shyla T
authors.initials: ST
authors.lastname: Govindappa
authors.forename: Uday B
authors.initials: UB
authors.lastname: Muthane
authors.forename: Ramesh C
authors.initials: RC
authors.lastname: Juyal
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: D015331:Cohort Studies; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D009154:Mutation; D059645:Mutation Rate; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins
keywords: Autosomal dominant; EIF4G1; Parkinson's disease; VPS35; p.Arg1205His mutation; p.Asp620Asn mutation