Arquivos de Neuro-Psiquiatria ()

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

  • Carlos Eduardo de Melo Amaral,
  • Patrick Farias Lopes,
  • Juliana Cristina Cardoso Ferreira,
  • Erik Artur Cortinhas Alves,
  • Marcella Vieira Barroso Montenegro,
  • Edmar Tavares da Costa,
  • Elizabeth Sumi Yamada,
  • Fernando Otávio Quaresma Cavalcante,
  • Luiz Carlos Santana-da-Silva

DOI
https://doi.org/10.1590/0004-282x20190006
Journal volume & issue
Vol. 77, no. 2
pp. 73 – 79

Abstract

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ABSTRACT 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.

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