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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

2010; Elsevier BV; Volume: 485; Issue: 2 Linguagem: Inglês

10.1016/j.neulet.2010.08.083

1872-7972

Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Karen Rafaella da Silva Diniz, Mário Campos, Cláudia Bueno Abdalla-Carvalho, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, William Luciano de Carvalho, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,

Neurological diseases and metabolism

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.