Produção Nacional
Revisado por pares
Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease
2013; Hindawi Publishing Corporation; Volume: 35; Linguagem: Inglês
10.1155/2013/597158
ISSN1875-8630
AutoresKarla Cristina Vasconcelos Moura, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Flávia Lima dos Santos, Fabíola da Costa Rodrigues, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Tópico(s)Neurological diseases and metabolism
ResumoParkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.
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