Article
Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome.
Molecular biology reports - 1 Oct 2012
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 excerpt
Individuals 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...
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