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

• Published in: Arquivos de neuro-psiquiatria Vol. 73; no. 6; pp. 506 - 509
• Main Authors: Longo, Gabriela S, Pinhel, Marcela A S, Gregório, Michele L, Oliveira, Bruno A P, Quinhoneiro, Driele C G, Tognola, Waldir A, Oliveira, Fábio N, Martins, Denise Poltronieri, Cezario, Sabrina M, Sado, Caroline L, Nakazone, Marcelo A, Calastri, Maria C J, Souza, Dorotéia R S
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Academia Brasileira de Neurologia - ABNEURO 01.06.2015; Academia Brasileira de Neurologia (ABNEURO)
• Subjects: Adult; Aged; alfa sinucleína; alpha-Synuclein - genetics; Brazil; Case-Control Studies; doença de Parkinson; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Mutation; mutação; NEUROSCIENCES; Parkinson Disease - genetics; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length - genetics; PSYCHIATRY; Sex Factors; Brazil; alfa sinucleína; mutation; doença de Parkinson; alpha-synuclein; Parkinson’s disease; mutação
• ISSN: 0004-282X; 1678-4227; 1678-4227; 0004-282X
• DOI: 10.1590/0004-282X20150032

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). 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. Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. 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.