title: Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
abstract: Parkinson'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.
authors.affiliation: Departamento de Genética, Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier 524, PHLC, Sala 501F, Maracanã, 20550-013 Rio de Janeiro, RJ, Brazil.
authors.forename: Karla Cristina Vasconcelos
authors.initials: KC
authors.lastname: Moura
authors.forename: Mário
authors.initials: M
authors.lastname: Campos Junior
authors.forename: Ana Lúcia Zuma
authors.initials: AL
authors.lastname: de Rosso
authors.forename: Denise Hack
authors.initials: DH
authors.lastname: Nicaretta
authors.forename: João Santos
authors.initials: JS
authors.lastname: Pereira
authors.forename: Delson José
authors.initials: DJ
authors.lastname: Silva
authors.forename: Flávia Lima
authors.initials: FL
authors.lastname: dos Santos
authors.forename: Fabíola da Costa
authors.initials: Fda C
authors.lastname: Rodrigues
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000328:Adult; D017668:Age of Onset; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011494:Protein Kinases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein