Artigo

GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil

Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common...

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Autor principal: AMARAL, Carlos Eduardo de Melo
Outros Autores: LOPES, Patrick Farias, FERREIRA, Juliana Cristina Cardoso, ALVES, Erik Artur Cortinhas, MONTENEGRO, Marcella Vieira Barroso, COSTA, Edmar Tavares da, YAMADA, Elizabeth Sumi, CAVALCANTE, Fernando Otávio Quaresma, SILVA, Luiz Carlos Santana da
Grau: Artigo
Idioma: eng
Publicado em: Universidade Federal do Pará 2019
Assuntos:
Doença de Parkinson
Doença de Gaucher
Mutação
Acesso em linha: http://repositorio.ufpa.br/jspui/handle/2011/10875
http://dx.doi.org/10.1590/0004-282x2019000
id ir-2011-10875
recordtype dspace
spelling ir-2011-108752019-04-06T05:44:41Z GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil Mutações p.N370S e p.L444P no gene GBA estão associadas com doença de Parkinson em pacientes do norte do Brasil AMARAL, Carlos Eduardo de Melo LOPES, Patrick Farias FERREIRA, Juliana Cristina Cardoso ALVES, Erik Artur Cortinhas MONTENEGRO, Marcella Vieira Barroso COSTA, Edmar Tavares da YAMADA, Elizabeth Sumi CAVALCANTE, Fernando Otávio Quaresma SILVA, Luiz Carlos Santana da Doença de Parkinson Doença de Gaucher Mutação Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil. Mutações no gene GBA têm sido reportadas em pacientes com doença de Parkinson (DP) em diferentes países, incluindo o Brasil. Com o objetivo de confirmar esse padrão em uma amostra de pacientes com DP provenientes do Norte brasileiro, foi conduzindo esse estudo caso-controle investigando a frequência das duas mutações mais comuns do gene GBA (c.1226A>G; p.N370S e c.1448T>C; p.L444P) em um grupo de 81 pacientes com DP e 81 controles, usando PCR-RFLP e confirmado pelo sequenciamento direto de produtos de PCR. No grupo experimental, três pacientes (3,7%) foram heterozigotos para a mutação c.1226A>G; p.N370S e três (3,7%), para a mutação c.1448T>C; p.L444P Nenhuma das duas mutações foi detectada no grupo controle (p =0,0284). Pacientes com a mutação c.1448T>C; p.L444P demonstraram uma tendência a apresentar os sintomas mais precocemente, porém um número amostrai maior é necessário para confirmar essa observação. Nossos resultados sugerem uma associação entre essas duas mutações no gene GBA e o desenvolvimento de DP na população de pacientes do norte Brasileiro. CAVALCANTE, Fernando Otávio Quaresma. Universidade Federal do Pará, Hospital Universitário João de Barros Barreto (HUJBB) 2019-04-05T19:08:59Z 2019-04-05T19:08:59Z 2019 Artigo de Periódico AMARAL, Carlos Eduardo de Melo et al. GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil. Arquivos de Neuro-Psiquiatria, São Paulo, v. 77, n. 2, p. 73-79,  fev 2019. Disponível em: http://repositorio.ufpa.br/jspui/handle/2011/10875. Acesso em:. 1678-4227 http://repositorio.ufpa.br/jspui/handle/2011/10875 http://dx.doi.org/10.1590/0004-282x2019000 eng Arquivos de Neuro-Psiquiatria Acesso Aberto application/pdf Universidade Federal do Pará Brasil UFPA http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200073&lng=pt&nrm=iso
institution Repositório Institucional - Universidade Federal do Pará
collection RI-UFPA
language eng
topic Doença de Parkinson
Doença de Gaucher
Mutação
spellingShingle Doença de Parkinson
Doença de Gaucher
Mutação
AMARAL, Carlos Eduardo de Melo
GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
topic_facet Doença de Parkinson
Doença de Gaucher
Mutação
description Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
format Artigo
author AMARAL, Carlos Eduardo de Melo
author2 LOPES, Patrick Farias
FERREIRA, Juliana Cristina Cardoso
ALVES, Erik Artur Cortinhas
MONTENEGRO, Marcella Vieira Barroso
COSTA, Edmar Tavares da
YAMADA, Elizabeth Sumi
CAVALCANTE, Fernando Otávio Quaresma
SILVA, Luiz Carlos Santana da
author2Str LOPES, Patrick Farias
FERREIRA, Juliana Cristina Cardoso
ALVES, Erik Artur Cortinhas
MONTENEGRO, Marcella Vieira Barroso
COSTA, Edmar Tavares da
YAMADA, Elizabeth Sumi
CAVALCANTE, Fernando Otávio Quaresma
SILVA, Luiz Carlos Santana da
title GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
title_short GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
title_full GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
title_fullStr GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
title_full_unstemmed GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
title_sort gba mutations p.n370s and p.l444p are associated with parkinson's disease in patients from northern brazil
publisher Universidade Federal do Pará
publishDate 2019
url http://repositorio.ufpa.br/jspui/handle/2011/10875
http://dx.doi.org/10.1590/0004-282x2019000
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score 11.674752

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