Please use this identifier to cite or link to this item:
Type: Artigo
Title: Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with down syndrome
Author: Biselli, J. M.
Zampieri, B. L.
Goloni-Bertollo, E. M.
Haddad, R.
Fonseca, M. F. R.
Eberlin, M. N.
Vannucchi, H.
Carvalho, V. M.
Pavarino, E. C.
Abstract: ndividuals with Down syndrome (DS) carry three copies of the Cystathionine β-synthase (CβS) 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
Subject: Down, Síndrome de
Polimorfismo (Genética)
Country: Países Baixos
Editor: Springer
Rights: Fechado
Identifier DOI: 10.1007/s11033-012-1629-5
Date Issue: 2012
Appears in Collections:IQ - Artigos e Outros Documentos

Files in This Item:
File Description SizeFormat 
000308251600001.pdf363.12 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.