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

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 p...

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Veröffentlicht in:	European journal of obstetrics & gynecology and reproductive biology 2006-02, Vol.124 (2), p.130-133
1. Verfasser:	Eskes, T.K.A.B.
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - genetics Biological and medical sciences Chromosome aberrations DNA - genetics DNA - metabolism Down syndrome Down Syndrome - genetics Down Syndrome - metabolism Down Syndrome - prevention & control Female Ferredoxin-NADP Reductase - genetics Ferredoxin-NADP Reductase - metabolism Folate Folic Acid - administration & dosage Folic Acid - metabolism Genetic mutations Gynecology. Andrology. Obstetrics Homocysteine - metabolism Homocystinuria - genetics Humans Male Medical genetics Medical sciences Methionine - metabolism Methylenetetrahydrofolate Reductase (NADPH2) - genetics Methylenetetrahydrofolate Reductase (NADPH2) - metabolism Mothers Mutation
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Zusammenfassung:	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.
ISSN:	0301-2115 1872-7654
DOI:	10.1016/j.ejogrb.2005.07.028