Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions

Detalhes bibliográficos
Autor(a) principal: Castilhos, Raphael Machado de
Data de Publicação: 2019
Outros Autores: Santos, José Augusto dos, Augustin, Marina Coutinho, Pedroso, José Luiz, Barsottini, Orlando, Saba, Roberta, Ferraz, Henrique Ballalai, Godeiro Junior, Clécio, Vargas, Fernando Regla, Salarini, Diego Zanotti, Furtado, Gabriel Vasata, Polese-Bonatto, Marcia, Rodrigues, Luiza Paulsen, Sena, Lucas Schenatto, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/36719
Resumo: Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil.
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spelling Castilhos, Raphael Machado deSantos, José Augusto dosAugustin, Marina CoutinhoPedroso, José LuizBarsottini, OrlandoSaba, RobertaFerraz, Henrique BallalaiGodeiro Junior, ClécioVargas, Fernando ReglaSalarini, Diego ZanottiFurtado, Gabriel VasataPolese-Bonatto, MarciaRodrigues, Luiza PaulsenSena, Lucas SchenattoSaraiva-Pereira, Maria LuizaJardim, Laura Bannach2019-10-26T16:28:58Z2019-10-26T16:28:58Z2019CASTILHOS, Raphael Machado de et al. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions. Genetics and Molecular Biology, v. 42, n. 2, p. 329-336, 2019.1415-4757https://www.arca.fiocruz.br/handle/icict/3671910.1590/1678-4685-GMB-2018-00321678-4685engSociedade Brasileira de GenéticaDoença de HuntingtonPrevalência mínimaInstabilidade intergeracionalCAG expansionHuntington’s diseaseIntergenerational instabilityMinimal prevalenceMinimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissionsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Universidade Federal de São Paulo. Escola Paulista de Medicina. Disciplina de Neurologia Clínica. São Paulo, SP, Brasil.Universidade Federal de São Paulo. Escola Paulista de Medicina. Disciplina de Neurologia Clínica. São Paulo, SP, Brasil.Universidade Federal de São Paulo. Escola Paulista de Medicina. Disciplina de Neurologia Clínica. São Paulo, SP, Brasil.Universidade Federal de São Paulo. Escola Paulista de Medicina. Disciplina de Neurologia Clínica. São Paulo, SP, Brasil.Universidade Federal do Rio Grande do Norte. Departamento de Medicina Integrada. Natal, RN, Brasil.Universidade Federal do Estado do Rio de Janeiro. Hospital Gaffrée Guinle. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Santa Casa de Misericórdia de São Paulo. São Paulo, SP, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Bioquímica. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, BrasilUniversidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Biologia Celular e Molecular. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Celular. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Celular. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Bioquímica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Biologia Celular e Molecular. Porto Alegre, RS, Brasil. Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Bioquímica. Porto Alegre, RS, Brasil.Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil;Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Medicina Interna. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Identificação Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil.Huntington's disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/36719/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALFernadoReglaVargas_etal_IOC_2019.pdfFernadoReglaVargas_etal_IOC_2019.pdfapplication/pdf1059149https://www.arca.fiocruz.br/bitstream/icict/36719/2/FernadoReglaVargas_etal_IOC_2019.pdf03ed5bab934598183523bc754ffcdcbdMD52TEXTFernadoReglaVargas_etal_IOC_2019.pdf.txtFernadoReglaVargas_etal_IOC_2019.pdf.txtExtracted texttext/plain32047https://www.arca.fiocruz.br/bitstream/icict/36719/3/FernadoReglaVargas_etal_IOC_2019.pdf.txtd35eb09d02d9a941b2c218d697f0b350MD53icict/367192019-11-26 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dc.title.pt_BR.fl_str_mv Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
title Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
spellingShingle Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
Castilhos, Raphael Machado de
Doença de Huntington
Prevalência mínima
Instabilidade intergeracional
CAG expansion
Huntington’s disease
Intergenerational instability
Minimal prevalence
title_short Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
title_full Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
title_fullStr Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
title_full_unstemmed Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
title_sort Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
author Castilhos, Raphael Machado de
author_facet Castilhos, Raphael Machado de
Santos, José Augusto dos
Augustin, Marina Coutinho
Pedroso, José Luiz
Barsottini, Orlando
Saba, Roberta
Ferraz, Henrique Ballalai
Godeiro Junior, Clécio
Vargas, Fernando Regla
Salarini, Diego Zanotti
Furtado, Gabriel Vasata
Polese-Bonatto, Marcia
Rodrigues, Luiza Paulsen
Sena, Lucas Schenatto
Saraiva-Pereira, Maria Luiza
Jardim, Laura Bannach
author_role author
author2 Santos, José Augusto dos
Augustin, Marina Coutinho
Pedroso, José Luiz
Barsottini, Orlando
Saba, Roberta
Ferraz, Henrique Ballalai
Godeiro Junior, Clécio
Vargas, Fernando Regla
Salarini, Diego Zanotti
Furtado, Gabriel Vasata
Polese-Bonatto, Marcia
Rodrigues, Luiza Paulsen
Sena, Lucas Schenatto
Saraiva-Pereira, Maria Luiza
Jardim, Laura Bannach
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Castilhos, Raphael Machado de
Santos, José Augusto dos
Augustin, Marina Coutinho
Pedroso, José Luiz
Barsottini, Orlando
Saba, Roberta
Ferraz, Henrique Ballalai
Godeiro Junior, Clécio
Vargas, Fernando Regla
Salarini, Diego Zanotti
Furtado, Gabriel Vasata
Polese-Bonatto, Marcia
Rodrigues, Luiza Paulsen
Sena, Lucas Schenatto
Saraiva-Pereira, Maria Luiza
Jardim, Laura Bannach
dc.subject.other.pt_BR.fl_str_mv Doença de Huntington
Prevalência mínima
Instabilidade intergeracional
topic Doença de Huntington
Prevalência mínima
Instabilidade intergeracional
CAG expansion
Huntington’s disease
Intergenerational instability
Minimal prevalence
dc.subject.en.pt_BR.fl_str_mv CAG expansion
Huntington’s disease
Intergenerational instability
Minimal prevalence
description Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Rede Neurogenética. Centro de Pesquisa Clínica. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-10-26T16:28:58Z
dc.date.available.fl_str_mv 2019-10-26T16:28:58Z
dc.date.issued.fl_str_mv 2019
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv CASTILHOS, Raphael Machado de et al. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions. Genetics and Molecular Biology, v. 42, n. 2, p. 329-336, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/36719
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
dc.identifier.doi.none.fl_str_mv 10.1590/1678-4685-GMB-2018-0032
dc.identifier.eissn.none.fl_str_mv 1678-4685
identifier_str_mv CASTILHOS, Raphael Machado de et al. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions. Genetics and Molecular Biology, v. 42, n. 2, p. 329-336, 2019.
1415-4757
10.1590/1678-4685-GMB-2018-0032
1678-4685
url https://www.arca.fiocruz.br/handle/icict/36719
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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