Author | Moura, Karla Cristina Vasconcelos | |
Author | Campos Jurnio, Mário | |
Author | Rosso, Ana Lúcia Zuma de | |
Author | Nicaretta, Denise Hack | |
Author | Pereira, João Santos | |
Author | Silva, Delson José | |
Author | Santos, Flávia Lima dos | |
Author | Rodrigues, Fabíola da Costa | |
Author | Rebouças, Cíntia Barros Santos | |
Author | Pimentel, Márcia Mattos Gonçalves | |
Access date | 2015-09-21T17:25:34Z | |
Available date | 2015-09-21T17:25:34Z | |
Document date | 2013 | pt_BR |
Citation | MOURA, 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. | pt_BR |
ISSN | 0278-0240 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/11739 | |
Language | eng | pt_BR |
Publisher | Hindawi Publishing Corporation | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Brasil | pt_BR |
Subject in Portuguese | Doença de Parkinson | pt_BR |
Title | Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease | pt_BR |
Type | Article | pt_BR |
DOI | 10.1155/2013/597158 | pt_BR |
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 pointmutations aremore common in Brazilian early-onset Parkinson’s disease patients (2.9%) than PINK1 missense variants
(0%), corroborating other studies worldwide. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade Federal do Rio de Janeiro. Hospital Universit´ario Clementino Fraga Filho. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Santa Casa da Misericórdia do Rio de Janeiro. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Centro Biomédico. Faculdade de Ciências Médicas. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade Federal de Goiás. Hospital das Clínicas. Núcleo de Neurociências. Goiânia, GO, Brasil / Instituto Integrado de Neurociências. Goiânia, GO, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Subject | Parkinson’s Disease | pt_BR |
Subject | Brazilian Patients | pt_BR |
Subject | Genetic Analysis | pt_BR |
Subject | PARK2 Genes | pt_BR |
Subject | PINK1 Genes | pt_BR |
Subject | Early-Onset Parkinson’s Disease | pt_BR |
DeCS | Doença de Parkinson | pt_BR |