Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease |
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Authors: | Adriana Vaz dos Santos,Cristiane Pinheiro Pestana,Karen Rafaella da Silva Diniz,Má rio Campos,Clá udia Bueno Abdalla-Carvalho,Ana Lú cia Zuma de Rosso,Joã o Santos Pereira,Denise Hack Nicaretta,William Luciano de Carvalho,Jussara Mendonç a dos Santos,Cí ntia Barros Santos-Rebouç as,Má rcia Mattos Gonç alves Pimentel |
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Affiliation: | 1. 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;2. Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil;3. Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil;4. Santa Casa de Misericórdia do Rio de Janeiro, Rio de Janeiro, RJ, Brazil;5. Hospital Geral de Goiânia,Goiânia, GO, Brazil |
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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. |
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Keywords: | Parkinson's disease GBA GIGYF2 ATP13A2 |
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