Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease

dc.creatorMoura, Karla Cristina Vasconcelos
dc.creatorCampos Jurnio, Mário
dc.creatorRosso, Ana Lúcia Zuma de
dc.creatorNicaretta, Denise Hack
dc.creatorPereira, João Santos
dc.creatorSilva, Delson José
dc.creatorSantos, Flávia Lima dos
dc.creatorRodrigues, Fabíola da Costa
dc.creatorRebouças, Cíntia Barros Santos
dc.creatorPimentel, Márcia Mattos Gonçalves
dc.date2015-09-21T17:25:34Z
dc.date2015-09-21T17:25:34Z
dc.date2013
dc.date.accessioned2023-09-26T23:07:34Z
dc.date.available2023-09-26T23:07:34Z
dc.identifierMOURA, Karla Cristina Vasconcelos; et al. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease. Disease Markers, v.35, n.3, p.181-185, 2013.
dc.identifier0278-0240
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/11739
dc.identifier10.1155/2013/597158
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8887135
dc.descriptionParkinson’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 pointmutations aremore common in Brazilian early-onset Parkinson’s disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.
dc.formatapplication/pdf
dc.languageeng
dc.publisherHindawi Publishing Corporation
dc.rightsopen access
dc.subjectBrasil
dc.subjectDoença de Parkinson
dc.subjectParkinson’s Disease
dc.subjectBrazilian Patients
dc.subjectGenetic Analysis
dc.subjectPARK2 Genes
dc.subjectPINK1 Genes
dc.subjectEarly-Onset Parkinson’s Disease
dc.subjectDoença de Parkinson
dc.titleGenetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
dc.typeArticle


Este ítem pertenece a la siguiente institución