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

Detalhes bibliográficos
Autor(a) principal: Moura, Karla Cristina Vasconcelos
Data de Publicação: 2013
Outros Autores: Campos Jurnio, Mário, Rosso, Ana Lúcia Zuma de, Nicaretta, Denise Hack, Pereira, João Santos, Silva, Delson José, Santos, Flávia Lima dos, Rodrigues, Fabíola da Costa, Rebouças, Cíntia Barros Santos, Pimentel, Márcia Mattos Gonçalves
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/11739
Resumo: Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
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spelling Moura, Karla Cristina VasconcelosCampos Jurnio, MárioRosso, Ana Lúcia Zuma deNicaretta, Denise HackPereira, João SantosSilva, Delson JoséSantos, Flávia Lima dosRodrigues, Fabíola da CostaRebouças, Cíntia Barros SantosPimentel, Márcia Mattos Gonçalves2015-09-21T17:25:34Z2015-09-21T17:25:34Z2013MOURA, 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, 2013.0278-0240https://www.arca.fiocruz.br/handle/icict/1173910.1155/2013/597158engHindawi Publishing CorporationBrasilDoença de ParkinsonParkinson’s DiseaseBrazilian PatientsGenetic AnalysisPARK2 GenesPINK1 GenesEarly-Onset Parkinson’s DiseaseDoença de ParkinsonGenetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Diseaseinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Hospital Universit´ario Clementino Fraga Filho. Rio de Janeiro, RJ, Brasil.Santa Casa da Misericórdia do Rio de Janeiro. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Centro Biomédico. Faculdade de Ciências Médicas. Rio de Janeiro, RJ, Brasil.Universidade Federal de Goiás. Hospital das Clínicas. Núcleo de Neurociências. Goiânia, GO, Brasil / Instituto Integrado de Neurociências. Goiânia, GO, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.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.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1914https://www.arca.fiocruz.br/bitstream/icict/11739/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALmario_camposjr_etal_IOC_2013.pdfapplication/pdf1188978https://www.arca.fiocruz.br/bitstream/icict/11739/2/mario_camposjr_etal_IOC_2013.pdff638012ec1b52eb8da449aa167e62336MD52TEXTmario_camposjr_etal_IOC_2013.pdf.txtmario_camposjr_etal_IOC_2013.pdf.txtExtracted texttext/plain26601https://www.arca.fiocruz.br/bitstream/icict/11739/3/mario_camposjr_etal_IOC_2013.pdf.txt5beea27fba560c7d2f269bb3ca1bc9b9MD53icict/117392022-06-24 13:08:49.97oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352022-06-24T16:08:49Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
title Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
spellingShingle Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
Moura, Karla Cristina Vasconcelos
Brasil
Doença de Parkinson
Parkinson’s Disease
Brazilian Patients
Genetic Analysis
PARK2 Genes
PINK1 Genes
Early-Onset Parkinson’s Disease
Doença de Parkinson
title_short Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
title_full Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
title_fullStr Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
title_full_unstemmed Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
title_sort Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson’s Disease
author Moura, Karla Cristina Vasconcelos
author_facet Moura, Karla Cristina Vasconcelos
Campos Jurnio, Mário
Rosso, Ana Lúcia Zuma de
Nicaretta, Denise Hack
Pereira, João Santos
Silva, Delson José
Santos, Flávia Lima dos
Rodrigues, Fabíola da Costa
Rebouças, Cíntia Barros Santos
Pimentel, Márcia Mattos Gonçalves
author_role author
author2 Campos Jurnio, Mário
Rosso, Ana Lúcia Zuma de
Nicaretta, Denise Hack
Pereira, João Santos
Silva, Delson José
Santos, Flávia Lima dos
Rodrigues, Fabíola da Costa
Rebouças, Cíntia Barros Santos
Pimentel, Márcia Mattos Gonçalves
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Moura, Karla Cristina Vasconcelos
Campos Jurnio, Mário
Rosso, Ana Lúcia Zuma de
Nicaretta, Denise Hack
Pereira, João Santos
Silva, Delson José
Santos, Flávia Lima dos
Rodrigues, Fabíola da Costa
Rebouças, Cíntia Barros Santos
Pimentel, Márcia Mattos Gonçalves
dc.subject.other.pt_BR.fl_str_mv Brasil
Doença de Parkinson
topic Brasil
Doença de Parkinson
Parkinson’s Disease
Brazilian Patients
Genetic Analysis
PARK2 Genes
PINK1 Genes
Early-Onset Parkinson’s Disease
Doença de Parkinson
dc.subject.en.pt_BR.fl_str_mv Parkinson’s Disease
Brazilian Patients
Genetic Analysis
PARK2 Genes
PINK1 Genes
Early-Onset Parkinson’s Disease
dc.subject.decs.pt_BR.fl_str_mv Doença de Parkinson
description Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2015-09-21T17:25:34Z
dc.date.available.fl_str_mv 2015-09-21T17:25:34Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv 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.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/11739
dc.identifier.issn.pt_BR.fl_str_mv 0278-0240
dc.identifier.doi.pt_BR.fl_str_mv 10.1155/2013/597158
identifier_str_mv 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.
0278-0240
10.1155/2013/597158
url https://www.arca.fiocruz.br/handle/icict/11739
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
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collection Repositório Institucional da FIOCRUZ (ARCA)
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