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Type: Artigo de periódico
Title: Dhfr 19-bp Deletion And Shmt C1420t Polymorphisms And Metabolite Concentrations Of The Folate Pathway In Individuals With Down Syndrome
Author: Mendes C.C.
Raimundo A.M.Z.D.A.
Oliveira L.D.
Zampieri B.L.
Marucci G.H.
Biselli J.M.
Goloni-Bertollo E.M.
Eberlin M.N.
Haddad R.
Riccio M.F.
Vannucchi H.
Carvalho V.M.
Pavarino E.C.
Abstract: Background: Down syndrome (DS) results from the presence and expression of three copies of the genes located on chromosome 21. Studies have shown that, in addition to overexpression of the Cystathionine β-synthase (CBS) gene, polymorphisms in genes involved in folate/homocysteine (Hcy) metabolism may also influence the concentrations of metabolites of this pathway. Aim: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methods: Molecular analysis of the DHFR 19-bp deletion and SHMT C1420T polymorphisms was performed by polymerase chain reaction (PCR) by difference in the size of fragments and real-time PCR allelic discrimination, respectively. Serum folate was quantified by chemiluminescence and plasma Hcy and MMA by liquid chromatography-tandem mass spectrometry. Results: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). In addition, the MMA concentrations were negatively associated with age (p=0.04). Conclusion: There is an association between DHFR DD/SHMT TT and DHFR II/SHMT TT combined genotypes and folate and MMA concentrations in individuals with DS. © Copyright 2013, Mary Ann Liebert, Inc. 2013.
Rights: fechado
Identifier DOI: 10.1089/gtmb.2012.0293
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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