Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/2367
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleGenetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndromept_BR
dc.contributor.authorBiselli, J. M.pt_BR
dc.contributor.authorZampieri, B. L.pt_BR
dc.contributor.authorGoloni-Bertollo, E. M.pt_BR
dc.contributor.authorHaddad, R.pt_BR
dc.contributor.authorFonseca, M. F. R.pt_BR
dc.contributor.authorEberlin, M. N.pt_BR
dc.contributor.authorVannucchi, H.pt_BR
dc.contributor.authorCarvalho, V. M.pt_BR
dc.contributor.authorPavarino, E. C.pt_BR
unicamp.authorHaddad, R.pt_BR
unicamp.authorFonseca, M. F. R.pt_BR
unicamp.authorEberlin, M. N.pt_BR
unicamp.author.externalBiselli, J. M.pt
unicamp.author.externalZampieri, B. L.pt
unicamp.author.externalGoloni-Bertollo, E. M.pt
unicamp.author.externalVannucchi, H.pt
unicamp.author.externalCarvalho, V. M.pt
unicamp.author.externalPavarino, E. C.pt
dc.subjectDown syndromept_BR
dc.subjectFolatept_BR
dc.subjectGenetic polymorphismpt_BR
dc.subjectHomocysteinept_BR
dc.subjectMethylmalonic acidpt_BR
dc.subject.wosHOMOCYSTEINE METHYLTRANSFERASE BHMTpt_BR
dc.subject.wosCORONARY-ARTERY-DISEASEpt_BR
dc.subject.wosTRANSCOBALAMIN-II GENEpt_BR
dc.subject.wosONE-CARBON METABOLISMpt_BR
dc.subject.wosNEURAL-TUBE DEFECTSpt_BR
dc.subject.wosPLASMA HOMOCYSTEINEpt_BR
dc.subject.wosBETAINE-HOMOCYSTEINEpt_BR
dc.subject.wosMETHYLENETETRAHYDROFOLATE REDUCTASEpt_BR
dc.subject.wosMETHYLMALONIC ACIDpt_BR
dc.subject.wos776C-GREATER-THAN-G POLYMORPHISMpt_BR
dc.description.abstractIndividuals with Down syndrome (DS) carry three copies of the Cystathionine beta-synthase (C beta S) gene. The increase in the dosage of this gene results in an altered profile of metabolites involved in the folate pathway, including reduced homocysteine (Hcy), methionine, S-adenosylhomocysteine (SAH) and S-adenosylmethionine (SAM). Furthermore, previous studies in individuals with DS have shown that genetic variants in genes involved in the folate pathway influence the concentrations of this metabolism's products. The purpose of this study is to investigate whether polymorphisms in genes involved in folate metabolism affect the plasma concentrations of Hcy and methylmalonic acid (MMA) along with the concentration of serum folate in individuals with DS. Twelve genetic polymorphisms were investigated in 90 individuals with DS (median age 1.29 years, range 0.07-30.35 years; 49 male and 41 female). Genotyping for the polymorphisms was performed either by polymerase chain reaction (PCR) based techniques or by direct sequencing. Plasma concentrations of Hcy and MMA were measured by liquid chromatography-tandem mass spectrometry as previously described, and serum folate was quantified using a competitive immunoassay. Our results indicate that the MTHFR C677T, MTR A2756G, TC2 C776G and BHMT G742A polymorphisms along with MMA concentration are predictors of Hcy concentration. They also show that age and Hcy concentration are predictors of MMA concentration. These findings could help to understand how genetic variation impacts folate metabolism and what metabolic consequences these variants have in individuals with trisomy 21.pt
dc.relation.ispartofMolecular Biology Reportspt_BR
dc.publisher.cityDordrechtpt_BR
dc.publisherSpringerpt_BR
dc.date.issued2012pt_BR
dc.identifier.citationMolecular Biology Reports. Springer, v.39, n.10, p.9277-9284, 2012pt_BR
dc.language.isoengpt_BR
dc.description.volume39pt_BR
dc.description.issuenumber10pt_BR
dc.description.firstpage9277pt_BR
dc.description.lastpage9284pt_BR
dc.rightsfechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0301-4851pt_BR
dc.identifier.wosidWOS:000308251600001pt_BR
dc.identifier.doi10.1007/s11033-012-1629-5pt_BR
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.description.sponsorship1Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.date.available2013-09-19T18:06:42Z
dc.date.available2016-07-01T12:52:01Z-
dc.date.accessioned2013-09-19T18:06:42Z
dc.date.accessioned2016-07-01T12:52:01Z-
dc.description.provenanceMade available in DSpace on 2013-09-19T18:06:42Z (GMT). No. of bitstreams: 0 Previous issue date: 2012en
dc.description.provenanceMade available in DSpace on 2016-07-01T12:52:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2012en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/2367
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/2367-
dc.contributor.departmentEspectrometria
dc.contributor.unidadeIQpt
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