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

被引：6
作者：
Longo, Gabriela S. [1 ]
Pinhel, Marcela A. S. [2 ]
Gregorio, Michele L. [3 ]
Oliveira, Bruno A. P. [2 ]
Quinhoneiro, Driele C. G. [2 ]
Tognola, Waldir A. [1 ]
Oliveira, Fabio N. [1 ]
Cezario, Sabrina M. [1 ]
Sado, Caroline L. [4 ]
Nakazone, Marcelo A. [1 ]
Calastri, Maria C. J. [1 ]
Souza, Doroteia R. S. [1 ]
机构：
[1] Fac Med Sao Jose do Rio Preto, Sao Jose Do Rio Preto, SP, Brazil
[2] Univ Sao Paulo, Fac Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, Brazil
[3] Univ Franca, Franca, SP, Brazil
[4] Univ Fed Sao Paulo, Sao Paulo, SP, Brazil
来源：
ARQUIVOS DE NEURO-PSIQUIATRIA | 2015年 / 73卷 / 06期
关键词：
Parkinson's disease; alpha-synuclein; mutation; ALA53THR MUTATION; SNCA; GENE; PINK1; PESTICIDES; PHENOTYPE; FAMILIES; DNA;
D O I：
10.1590/0004-282X20150032
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
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.
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收藏
页码：506 / 509
页数：4
相关论文
共 30 条
[1]   Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding α-synuclein [J].
Athanassiadou, A ;
Voutsinas, G ;
Psiouri, L ;
Leroy, E ;
Polymeropoulos, MH ;
Ilias, A ;
Maniatis, GM ;
Papapetropoulos, T .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :555-558
[2]   Lysosomes and α-synuclein form a dangerous duet leading to neuronal cell death [J].
Bourdenx, Mathieu ;
Bezard, Erwan ;
Dehay, Benjamin .
FRONTIERS IN NEUROANATOMY, 2014, 8
[3]   The crowd you're in with: Effects of different types of crowding agents on protein aggregation [J].
Breydo, Leonid ;
Reddy, Krishna D. ;
Piai, Alessandro ;
Felli, Isabella C. ;
Pierattelli, Roberta ;
Uversky, Vladimir N. .
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS, 2014, 1844 (02) :346-357
[4]   Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic: Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations [J].
Camargos, Sarah Teixeira ;
Dornas, Leonardo Oliveira ;
Momeni, Parastoo ;
Lees, Andrew ;
Hardy, John ;
Singleton, Andrew ;
Cardoso, Francisco .
MOVEMENT DISORDERS, 2009, 24 (05) :662-666
[5]   Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease [J].
Choi, Jung Mi ;
Woo, Myoung Soo ;
Ma, Hyeo-Il ;
Kang, Suk Yun ;
Sung, Young-Hee ;
Yong, Seok Woo ;
Chung, Sun Ju ;
Kim, Joong-Seok ;
Shin, Hae-won ;
Lyoo, Chul Hyoung ;
Lee, Phil Hyu ;
Baik, Jong Sam ;
Kim, Sang-Jin ;
Park, Mee Young ;
Sohn, Young Ho ;
Kim, Jin-Ho ;
Kim, Jae Woo ;
Lee, Myung Sik ;
Lee, Myoung Chong ;
Kim, Dong-Hyun ;
Kim, Yun Joong .
NEUROGENETICS, 2008, 9 (04) :263-269
[6]   Genetics and Epigenetics of Parkinson's Disease [J].
Coppede, Fabio .
SCIENTIFIC WORLD JOURNAL, 2012,
[7]   Nullity of GSTT1/GSTM1 related to pesticides is associated with Parkinson's disease [J].
de Souza Pinhel, Marcelo Augusta ;
Sado, Caroline Leiko ;
Longo, Gabriela dos Santos ;
Gregorio, Michele Limo ;
Amorim, Gisele Sousa ;
da Silva Florim, Greiciane Maria ;
Mazeti, Camila Montoro ;
Martins, Denise Poltronieri ;
Oliveira, Fabio de Nazare ;
Nakozone, Marcelo Arruda ;
Tognola, Waldir Antonio ;
Silva Souza, Doroteia Rossi .
ARQUIVOS DE NEURO-PSIQUIATRIA, 2013, 71 (08) :527-532
[8]   Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease [J].
dos Santos, Adriana Vaz ;
Pestana, Cristiane Pinheiro ;
da Silva Diniz, Karen Rafaella ;
Campos, Mario ;
Abdalla-Carvalho, Claudia Bueno ;
Zuma de Rosso, Ana Lucia ;
Pereira, Joao Santos ;
Nicaretta, Denise Hack ;
de Carvalho, William Luciano ;
dos Santos, Jussara Mendonca ;
Santos-Reboucas, Cintia Barros ;
Goncalves Pimentel, Marcia Mattos .
NEUROSCIENCE LETTERS, 2010, 485 (02) :121-124
[9]   Low frequency of α-synuclein mutations in familial Parkinson's disease [J].
Farrer, M ;
Wavrant-De Vrieze, F ;
Crook, R ;
Boles, L ;
Perez-Tur, J ;
Hardy, J ;
Johnson, WG ;
Steele, J ;
Maraganore, D ;
Gwinn, K ;
Lynch, T .
ANNALS OF NEUROLOGY, 1998, 43 (03) :394-397
[10]   Impact of Genetic Variants of Apolipoprotein E on Lipid Profile in Patients with Parkinson's Disease [J].
Gregorio, Michele L. ;
Pinhel, Marcela A. S. ;
Sado, Caroline L. ;
Longo, Gabriela S. ;
Oliveira, Fabio N. ;
Amorim, Gisele S. ;
Nakazone, Marcelo A. ;
Florim, Greiciane M. ;
Mazeti, Camila M. ;
Martins, Denise P. ;
Tognola, Waldir A. ;
Brandao, Antonio C. ;
Pinheiro Junior, Sidney ;
de Godoy, Moacir F. ;
Souza, Doroteia R. S. .
BIOMED RESEARCH INTERNATIONAL, 2013, 2013
123