Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature

T K A B Eskes

doi:10.1016/j.ejogrb.2005.07.028

Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature

Eur J Obstet Gynecol Reprod Biol. 2006 Feb 1;124(2):130-3. doi: 10.1016/j.ejogrb.2005.07.028. Epub 2005 Oct 5.

Author

T K A B Eskes¹

Affiliation

¹ University Medical Center St. Radboud, 6500 HB Nijmegen (NL), Netherlands. tkabeskes@hotmail.com

PMID: 16169148
DOI: 10.1016/j.ejogrb.2005.07.028

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.

Publication types

Review

MeSH terms

5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics
DNA / genetics
DNA / metabolism
Down Syndrome / genetics*
Down Syndrome / metabolism
Down Syndrome / prevention & control
Female
Ferredoxin-NADP Reductase / genetics*
Ferredoxin-NADP Reductase / metabolism
Folic Acid / administration & dosage
Folic Acid / metabolism*
Homocysteine / metabolism
Homocystinuria / genetics
Humans
Male
Methionine / metabolism
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Methylenetetrahydrofolate Reductase (NADPH2) / metabolism
Mothers*
Mutation*

Substances

Homocysteine
DNA
Folic Acid
Methionine
methionine synthase reductase
Ferredoxin-NADP Reductase
Methylenetetrahydrofolate Reductase (NADPH2)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase