One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorFaculdade de Medicina de São José do Rio Preto-FAMERP-
Autor(es): dc.contributorHospital Israelita Albert Einstein-
Autor(es): dc.contributorBarretos Cancer Hospital-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorFé e Sociedade-
Autor(es): dc.contributorInstituto de Pesquisa Dr. Domingos A. Boldrini-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorFleury-Centro de Medicina Diagnóstica-
Autor(es): dc.creatorMendes, Cristiani Cortez-
Autor(es): dc.creatorZampieri, Bruna Lancia-
Autor(es): dc.creatorArantes, Lidia Maria Rebolho Batista-
Autor(es): dc.creatorMelendez, Matias Eliseo-
Autor(es): dc.creatorBiselli, Joice Matos-
Autor(es): dc.creatorCarvalho, André Lopes-
Autor(es): dc.creatorEberlin, Marcos Nogueira-
Autor(es): dc.creatorRiccio, Maria Francesca-
Autor(es): dc.creatorVannucchi, Hélio-
Autor(es): dc.creatorCarvalho, Valdemir Melechco-
Autor(es): dc.creatorGoloni-Bertollo, Eny Maria-
Autor(es): dc.creatorPavarino, Érika Cristina-
Data de aceite: dc.date.accessioned2025-08-21T19:08:24Z-
Data de disponibilização: dc.date.available2025-08-21T19:08:24Z-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2021-10-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/s13577-021-00586-0-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/229362-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/229362-
Descrição: dc.descriptionDown 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.-
Descrição: dc.descriptionUnidade de Pesquisa em Genética e Biologia Molecular-UPGEM Departamento de Biologia Molecular Faculdade de Medicina de São José do Rio Preto-FAMERP-
Descrição: dc.descriptionHospital Israelita Albert Einstein-
Descrição: dc.descriptionMolecular Oncology Research Center Barretos Cancer Hospital-
Descrição: dc.descriptionUniversidade Estadual Paulista Júlio de Mesquita Filho Instituto de Biociências Letras e Ciências Exatas de São José do Rio Preto Departamento de Ciências Biológicas-
Descrição: dc.descriptionUniversidade Presbiteriana Mackenzie Discovery-Mackenzie-Núcleo Mackenzie de Pesquisa Núcleo Mackenzie de Pesquisas em Ciência Fé e Sociedade-
Descrição: dc.descriptionInstituto de Pesquisa Dr. Domingos A. Boldrini-
Descrição: dc.descriptionLaboratório de Nutrição Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto-USP-
Descrição: dc.descriptionFleury-Centro de Medicina Diagnóstica-
Descrição: dc.descriptionUniversidade Estadual Paulista Júlio de Mesquita Filho Instituto de Biociências Letras e Ciências Exatas de São José do Rio Preto Departamento de Ciências Biológicas-
Formato: dc.format1671-1681-
Idioma: dc.languageen-
Relação: dc.relationHuman Cell-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectAlu elements-
Palavras-chave: dc.subjectDNA methylation-
Palavras-chave: dc.subjectDown syndrome-
Palavras-chave: dc.subjectLong interspersed nucleotide elements-
Palavras-chave: dc.subjectPolymorphism, Genetic-
Título: dc.titleOne-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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