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

Arq Neuropsiquiatr. 2019 Feb;77(2):73-79. doi: 10.1590/0004-282X20190006.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Brazil
  • Case-Control Studies
  • Cross-Sectional Studies
  • Female
  • Genetic Association Studies
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Risk Factors

Substances

  • GBA protein, human
  • Glucosylceramidase