One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1007/s13577-021-00586-0 http://hdl.handle.net/11449/229362 |
Resumo: | Down syndrome (DS) is the most common chromosomal disorder, resulting from the failure of normal chromosome 21 segregation. Studies have suggested that impairments within the one-carbon metabolic pathway can be of relevance for the global genome instability observed in mothers of individuals with DS. Based on the association between global DNA hypomethylation, genome instability, and impairments within the one-carbon metabolic pathway, the present study aimed to identify possible predictors, within the one-carbon metabolism, of global DNA methylation, measured by methylation patterns of LINE-1 and Alu repetitive sequences, in mothers of individuals with DS and mothers of individuals without the syndrome. In addition, we investigated one-carbon genetic polymorphisms and metabolites as maternal predisposing factors for the occurrence of trisomy 21 in children. Eighty-three samples of mothers of children with DS with karyotypically confirmed free trisomy 21 (case group) and 84 of mothers who had at least one child without DS or any other aneuploidy were included in the study. Pyrosequencing assays were performed to access global methylation. The results showed that group affiliation (case or control), betaine-homocysteine methyltransferase (BHMT) G742A and transcobalamin 2 (TCN2) C776G polymorphisms, and folate concentration were identified as predictors of global Alu DNA methylation values. In addition, thymidylate synthase (TYMS) 28-bp repeats 2R/3R or 3R/3R genotypes are independent maternal predisposing factors for having a child with DS. This study adds evidence that supports the association of impairments in the one-carbon metabolism, global DNA methylation, and the possibility of having a child with DS. |
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One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndromeAlu elementsDNA methylationDown syndromeLong interspersed nucleotide elementsPolymorphism, GeneticDown syndrome (DS) is the most common chromosomal disorder, resulting from the failure of normal chromosome 21 segregation. Studies have suggested that impairments within the one-carbon metabolic pathway can be of relevance for the global genome instability observed in mothers of individuals with DS. Based on the association between global DNA hypomethylation, genome instability, and impairments within the one-carbon metabolic pathway, the present study aimed to identify possible predictors, within the one-carbon metabolism, of global DNA methylation, measured by methylation patterns of LINE-1 and Alu repetitive sequences, in mothers of individuals with DS and mothers of individuals without the syndrome. In addition, we investigated one-carbon genetic polymorphisms and metabolites as maternal predisposing factors for the occurrence of trisomy 21 in children. Eighty-three samples of mothers of children with DS with karyotypically confirmed free trisomy 21 (case group) and 84 of mothers who had at least one child without DS or any other aneuploidy were included in the study. Pyrosequencing assays were performed to access global methylation. The results showed that group affiliation (case or control), betaine-homocysteine methyltransferase (BHMT) G742A and transcobalamin 2 (TCN2) C776G polymorphisms, and folate concentration were identified as predictors of global Alu DNA methylation values. In addition, thymidylate synthase (TYMS) 28-bp repeats 2R/3R or 3R/3R genotypes are independent maternal predisposing factors for having a child with DS. This study adds evidence that supports the association of impairments in the one-carbon metabolism, global DNA methylation, and the possibility of having a child with DS.Unidade de Pesquisa em Genética e Biologia Molecular-UPGEM Departamento de Biologia Molecular Faculdade de Medicina de São José do Rio Preto-FAMERPHospital Israelita Albert EinsteinMolecular Oncology Research Center Barretos Cancer HospitalUniversidade Estadual Paulista Júlio de Mesquita Filho Instituto de Biociências Letras e Ciências Exatas de São José do Rio Preto Departamento de Ciências BiológicasUniversidade Presbiteriana Mackenzie Discovery-Mackenzie-Núcleo Mackenzie de Pesquisa Núcleo Mackenzie de Pesquisas em Ciência Fé e SociedadeInstituto de Pesquisa Dr. Domingos A. BoldriniLaboratório de Nutrição Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto-USPFleury-Centro de Medicina DiagnósticaUniversidade Estadual Paulista Júlio de Mesquita Filho Instituto de Biociências Letras e Ciências Exatas de São José do Rio Preto Departamento de Ciências BiológicasFaculdade de Medicina de São José do Rio Preto-FAMERPHospital Israelita Albert EinsteinBarretos Cancer HospitalUniversidade Estadual Paulista (UNESP)Fé e SociedadeInstituto de Pesquisa Dr. Domingos A. BoldriniUniversidade de São Paulo (USP)Fleury-Centro de Medicina DiagnósticaMendes, Cristiani CortezZampieri, Bruna LanciaArantes, Lidia Maria Rebolho BatistaMelendez, Matias EliseoBiselli, Joice Matos [UNESP]Carvalho, André LopesEberlin, Marcos NogueiraRiccio, Maria FrancescaVannucchi, HélioCarvalho, Valdemir MelechcoGoloni-Bertollo, Eny MariaPavarino, Érika Cristina2022-04-29T08:32:07Z2022-04-29T08:32:07Z2021-11-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1671-1681http://dx.doi.org/10.1007/s13577-021-00586-0Human Cell, v. 34, n. 6, p. 1671-1681, 2021.1749-07740914-7470http://hdl.handle.net/11449/22936210.1007/s13577-021-00586-02-s2.0-85112802737Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengHuman Cellinfo:eu-repo/semantics/openAccess2022-04-29T08:32:08Zoai:repositorio.unesp.br:11449/229362Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:41:39.791167Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
title |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
spellingShingle |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome Mendes, Cristiani Cortez Alu elements DNA methylation Down syndrome Long interspersed nucleotide elements Polymorphism, Genetic |
title_short |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
title_full |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
title_fullStr |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
title_full_unstemmed |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
title_sort |
One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome |
author |
Mendes, Cristiani Cortez |
author_facet |
Mendes, Cristiani Cortez Zampieri, Bruna Lancia Arantes, Lidia Maria Rebolho Batista Melendez, Matias Eliseo Biselli, Joice Matos [UNESP] Carvalho, André Lopes Eberlin, Marcos Nogueira Riccio, Maria Francesca Vannucchi, Hélio Carvalho, Valdemir Melechco Goloni-Bertollo, Eny Maria Pavarino, Érika Cristina |
author_role |
author |
author2 |
Zampieri, Bruna Lancia Arantes, Lidia Maria Rebolho Batista Melendez, Matias Eliseo Biselli, Joice Matos [UNESP] Carvalho, André Lopes Eberlin, Marcos Nogueira Riccio, Maria Francesca Vannucchi, Hélio Carvalho, Valdemir Melechco Goloni-Bertollo, Eny Maria Pavarino, Érika Cristina |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Faculdade de Medicina de São José do Rio Preto-FAMERP Hospital Israelita Albert Einstein Barretos Cancer Hospital Universidade Estadual Paulista (UNESP) Fé e Sociedade Instituto de Pesquisa Dr. Domingos A. Boldrini Universidade de São Paulo (USP) Fleury-Centro de Medicina Diagnóstica |
dc.contributor.author.fl_str_mv |
Mendes, Cristiani Cortez Zampieri, Bruna Lancia Arantes, Lidia Maria Rebolho Batista Melendez, Matias Eliseo Biselli, Joice Matos [UNESP] Carvalho, André Lopes Eberlin, Marcos Nogueira Riccio, Maria Francesca Vannucchi, Hélio Carvalho, Valdemir Melechco Goloni-Bertollo, Eny Maria Pavarino, Érika Cristina |
dc.subject.por.fl_str_mv |
Alu elements DNA methylation Down syndrome Long interspersed nucleotide elements Polymorphism, Genetic |
topic |
Alu elements DNA methylation Down syndrome Long interspersed nucleotide elements Polymorphism, Genetic |
description |
Down syndrome (DS) is the most common chromosomal disorder, resulting from the failure of normal chromosome 21 segregation. Studies have suggested that impairments within the one-carbon metabolic pathway can be of relevance for the global genome instability observed in mothers of individuals with DS. Based on the association between global DNA hypomethylation, genome instability, and impairments within the one-carbon metabolic pathway, the present study aimed to identify possible predictors, within the one-carbon metabolism, of global DNA methylation, measured by methylation patterns of LINE-1 and Alu repetitive sequences, in mothers of individuals with DS and mothers of individuals without the syndrome. In addition, we investigated one-carbon genetic polymorphisms and metabolites as maternal predisposing factors for the occurrence of trisomy 21 in children. Eighty-three samples of mothers of children with DS with karyotypically confirmed free trisomy 21 (case group) and 84 of mothers who had at least one child without DS or any other aneuploidy were included in the study. Pyrosequencing assays were performed to access global methylation. The results showed that group affiliation (case or control), betaine-homocysteine methyltransferase (BHMT) G742A and transcobalamin 2 (TCN2) C776G polymorphisms, and folate concentration were identified as predictors of global Alu DNA methylation values. In addition, thymidylate synthase (TYMS) 28-bp repeats 2R/3R or 3R/3R genotypes are independent maternal predisposing factors for having a child with DS. This study adds evidence that supports the association of impairments in the one-carbon metabolism, global DNA methylation, and the possibility of having a child with DS. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-11-01 2022-04-29T08:32:07Z 2022-04-29T08:32:07Z |
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.uri.fl_str_mv |
http://dx.doi.org/10.1007/s13577-021-00586-0 Human Cell, v. 34, n. 6, p. 1671-1681, 2021. 1749-0774 0914-7470 http://hdl.handle.net/11449/229362 10.1007/s13577-021-00586-0 2-s2.0-85112802737 |
url |
http://dx.doi.org/10.1007/s13577-021-00586-0 http://hdl.handle.net/11449/229362 |
identifier_str_mv |
Human Cell, v. 34, n. 6, p. 1671-1681, 2021. 1749-0774 0914-7470 10.1007/s13577-021-00586-0 2-s2.0-85112802737 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Human Cell |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
1671-1681 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1808128967141490688 |