Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients
| Autor: | Fabio de Nazare Oliveira, Marcela Augusta de Souza Pinhel, Caroline L. Sado, Driele Cristina Gomes Quinhoneiro, Denise P. Martins, Marcelo Arruda Nakazone, Dorotéia Rossi Silva Souza, Sabrina Mayara Cezario, Waldir Antonio Tognola, Bruno Affonso Parenti de Oliveira, Michele Lima Gregório, Gabriela S. Longo, Maria Clara Jessica Calastri |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male medicine.medical_specialty Parkinson's disease Genotype Disease Polymerase Chain Reaction Gastroenterology lcsh:RC321-571 Pathogenesis Sex Factors Polymorphism (computer science) Internal medicine medicine Genetic predisposition Humans Genetic Predisposition to Disease lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Genotyping Genetic Association Studies Aged business.industry mutação Parkinson Disease alfa sinucleína Middle Aged medicine.disease doença de Parkinson Neurology Case-Control Studies Mutation Mutation (genetic algorithm) alpha-Synuclein Female Neurology (clinical) Restriction fragment length polymorphism business Brazil Polymorphism Restriction Fragment Length |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 73, Iss 6, Pp 506-509 (2015) |
| ISSN: | 0004-282X |
| Popis: | Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in thealpha-synucleingene (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 ofSNCA-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 ofSNCA-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. |
| Databáze: | OpenAIRE |
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