Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients

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Tavares de Andrade, Helen Maia ^[1] ; Cintra, Vivian Pedigone ^[2] ; de Albuquerque, Milena ^[1] ; Piccinin, Camila Callegari ^[1] ; Bonadia, Luciana Cardoso ^[3] ; Duarte Couteiro, Rafael Esteves ^[2] ; de Oliveira, Daniel Sabino ^[2] ; Claudino, Rinaldo ^[4] ; Magno Goncalves, Marcos Vinicius ^[4] ; Teixeira Dourado Jr, Mario Emilio ; de Souza, Leonardo Cruz ^{[5, 6]} ; Teixeira, Antonio Lucio ^{[5, 6]} ; Rousseff Prado, Laura de Godoy ^[6] ; Tumas, Vitor ^[2] ; Bulle Oliveira, Acary Souza ^[7] ; Nucci, Anamarli ^[1] ; Lopes-Cendes, Iscia ^[3] ; Marques Jr, Wilson ; Franca Jr, Marcondes C.

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Sch Med, Dept Neurol, UNICAMP, Campinas, SP - Brazil

^[2] Univ Sao Paulo HCFMRP USP, Ribeirao Preto Sch Med, Dept Neurosci & Behav Sci, Ribeirao Preto, SP - Brazil

^[3] Univ Estadual Campinas, Sch Med, Dept Med Genet, UNICAMP, Campinas, SP - Brazil

^[4] Univ Fed Santa Catarina, Dept Neurol, Campus Univ Reitor Joao David Ferreira Lima, Trindade - Brazil

^[5] Univ Fed Minas Gerais, Dept Internal Med, Fac Med, Belo Horizonte, MG - Brazil

^[6] Univ Fed Minas Gerais, Programa Posgrad Neurociencias, Belo Horizonte, MG - Brazil

^[7] Univ Fed Sao Paulo, Dept Neurol, Neuromuscular Disorders Unit, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: NEUROBIOLOGY OF AGING; v. 69, SEP 2018.
• Citações Web of Science: 2

Resumo

Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 x l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29-5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population. (C) 2018 Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 13/01766-7 - Contribuição ao diagnóstico, à fisiopatologia e à terapêutica das neuronopatias sensitivas
• Beneficiário: Marcondes Cavalcante Franca Junior
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores