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...
| Autor principal: | AMARAL, Carlos Eduardo de Melo |
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| 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
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| Acesso em linha: |
http://repositorio.ufpa.br/jspui/handle/2011/10875 http://dx.doi.org/10.1590/0004-282x2019000 |
| Resumo: |
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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. |