Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson's disease patients

作者：Longo Gabriela S; Pinhel Marcela A S^*; Gregorio Michele L; Oliveira Bruno A P; Quinhoneiro Driele C G; Tognola Waldir A; Oliveira Fabio N; Cezario Sabrina M; Sado Caroline L; Nakazone Marcelo A; Calastri Maria C J; Souza Doroteia R S

来源：Arquivos de Neuro-Psiquiatria, 2015, 73(6): 506-509.

DOI：10.1590/0004-282X20150032

• Parkinson's disease
• alpha-synuclein
• mutation

Introduction: The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA). Objective: To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). Method: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. Results: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. Conclusion: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

• 出版日期2015-6