Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
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.
Dos Santos
Adriana Vaz
AV
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.
Pestana
Cristiane Pinheiro
CP
Diniz
Karen Rafaella da Silva
KR
Campos
Mário
M
Abdalla-Carvalho
Cláudia Bueno
CB
de Rosso
Ana Lúcia Zuma
AL
Pereira
João Santos
JS
Nicaretta
Denise Hack
DH
de Carvalho
William Luciano
WL
Dos Santos
Jussara Mendonça
JM
Santos-Rebouças
Cíntia Barros
CB
Pimentel
Márcia Mattos Gonçalves
MM
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
C514983:ATP13A2 protein, human; D002352:Carrier Proteins; C478016:GIGYF2 protein, human; D005962:Glucosylceramidase; D006180:Proton-Translocating ATPases