title: Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature.
abstract: Altered maternal folate status and homozygous mutation in the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes can promote chromosomal instability and non-dysjunction resulting in fetal trisomy 21. Folate supplementation around conception therefore has the potential to reduce the frequency of Down syndrome. This finding, in addition to the prevention of neural tube defects, strengthens the recommendation to use folic acid around conception.
authors.affiliation: University Medical Center St. Radboud, 6500 HB Nijmegen (NL), Netherlands. tkabeskes@hotmail.com
authors.forename: T K A B
authors.initials: TK
authors.lastname: Eskes
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics* / Q000378:metabolism; D005492:Folic Acid / Q000008:administration & dosage / Q000378:metabolism*; D006710:Homocysteine / Q000378:metabolism; D006712:Homocystinuria / Q000235:genetics; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D009035:Mothers; D009154:Mutation
chemical_list: D006710:Homocysteine; D004247:DNA; D005492:Folic Acid; D008715:Methionine; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase