| Literature DB >> 20816920 |
Adriana Vaz Dos Santos1, 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.
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.Entities:
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Year: 2010 PMID： 20816920 DOI： 10.1016/j.neulet.2010.08.083
Source DB: PubMed Journal: Neurosci Lett ISSN： 0304-3940 Impact factor: 3.046