Publications by authors named "Aline Maria Zanchetta de Aquino Raimundo"
DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.
Cristiani Cortez Mendes Aline Maria Zanchetta de Aquino Raimundo Luciana Dutra Oliveira Bruna Lancia Zampieri Gustavo Henrique Marucci
Genet Test Mol Biomarkers
April 2013
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.