title: Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
abstract: In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic mutations in GBA gene among the PD cases (6/110=5.4%) when compared to the control group (0/155) (P=0.0047). Our results strongly support an association between GBA gene mutations and an increased risk of PD. Mutations in GIGYF2 and ATP13A2 do not seem to represent a risk factor to the development of PD in the Brazilian population. Considering the scarcity of studies on GIGYF2, ATP13A2 and GBA mutation frequency in Latin American countries, we present significant data about the contribution of these genes to PD susceptibility.
authors.affiliation: Serviço de Genética Humana, Departamento de Genética, Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC-sala 501, Maracanã, Rio de Janeiro, RJ 20550-013, Brazil.
authors.forename: Adriana Vaz
authors.initials: AV
authors.lastname: Dos Santos
authors.forename: Cristiane Pinheiro
authors.initials: CP
authors.lastname: Pestana
authors.forename: Karen Rafaella da Silva
authors.initials: KR
authors.lastname: Diniz
authors.forename: Mário
authors.initials: M
authors.lastname: Campos
authors.forename: Cláudia Bueno
authors.initials: CB
authors.lastname: Abdalla-Carvalho
authors.forename: Ana Lúcia Zuma
authors.initials: AL
authors.lastname: de Rosso
authors.forename: João Santos
authors.initials: JS
authors.lastname: Pereira
authors.forename: Denise Hack
authors.initials: DH
authors.lastname: Nicaretta
authors.forename: William Luciano
authors.initials: WL
authors.lastname: de Carvalho
authors.forename: Jussara Mendonça
authors.initials: JM
authors.lastname: Dos Santos
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000367:Age Factors; D000368:Aged; D001938:Brazil / Q000208:ethnology; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D012307:Risk Factors
chemical_list: C514983:ATP13A2 protein, human; D002352:Carrier Proteins; C478016:GIGYF2 protein, human; D005962:Glucosylceramidase; D006180:Proton-Translocating ATPases