title: Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease.
abstract: Vacuolar protein sorting 35 (VPS35) Asp620Asn mutation has been identified in late-onset familial Parkinson's disease (PD) patients of Swiss and Austrian descent as well as sporadic PD patients in the United States. In order to determine the contribution of VPS35 mutations in mainland Chinese PD patients and to better understand the association between VPS35 and PD, we sequenced all 17 exons of VPS35 in 32 probands of presumed autosomal-dominant, late-onset familial PD and 35 normal controls. Meanwhile, we analyzed VPS35 Asp620Asn mutation in 512 PD patients. A total of 371 subjects without neurological disorders from the same region in China were set as a control group. We did not find any VPS35 coding region mutation in 32 familial PD patients. VPS35 Asp620Asn mutation was either not found in 480 PD patients. Our results suggested that VPS35 Asp620Asn may be not associated with PD in Chinese population.
authors.affiliation: Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Shuai
authors.initials: S
authors.lastname: Chen
authors.forename: Qin
authors.initials: Q
authors.lastname: Xiao
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.forename: Jun
authors.initials: J
authors.lastname: Liu
authors.forename: Tian-Yi
authors.initials: TY
authors.lastname: Rong
authors.forename: Jian-Fang
authors.initials: JF
authors.lastname: Ma
authors.forename: Gang
authors.initials: G
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Sheng-Di
authors.initials: SD
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001216:Asparagine / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics*; D002681:China / Q000453:epidemiology / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins; D001224:Aspartic Acid; D001216:Asparagine