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Folates and the fetus
1Institute for the Prevention of Birth Defects, University Hospital Nijmegen Sint Radboud, Netherlands. G.Theunissen@obgyn.azn.nl
Insights
Folic acid supplementation before conception significantly reduces neural tube defects (NTDs) by addressing hyperhomocysteinemia and MTHFR gene mutations. This intervention helps overcome genetic metabolic defects linked to NTDs.
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Nutritional Science
Background:
- Neural tube defects (NTDs) are a significant concern in congenital abnormalities.
- Periconceptional folic acid intake is a known preventive measure for NTDs.
Purpose of the Study:
- To investigate the role of hyperhomocysteinemia and methylenetetrahydrofolate-reductase (MTHFR) gene mutations in folic acid-preventable NTDs.
- To explore the folate methylation cycle's involvement in NTD etiology.
Main Methods:
- Analysis of genetic predisposition (MTHFR gene mutations).
- Assessment of hyperhomocysteinemia as a contributing factor.
- Hypothesizing the role of the folate methylation cycle.
Main Results:
- Folic acid-preventable NTDs are associated with hyperhomocysteinemia.
- A genetic predisposition, specifically MTHFR gene mutations, contributes to NTDs.
- Reduced folate methylation cycle activity is a plausible etiological factor.
Conclusions:
- Periconceptional folic acid and vitamin B12 can correct the genetic metabolic defect causing NTDs.
- Understanding the folate methylation cycle provides insights into NTD prevention strategies.
Abstract:
It is proven that folic acid supplied in the periconceptional period can lower the recurrence and occurrence rate of neural tube defects (NTDs). Our research team on prevention of birth defects could demonstrate that folic acid preventable NTDs are partly based on hyperhomocystinemia and a genetic predisposition (mutation of the methylenetetrahydrofolate-reductase gene (MTHF-R)). Reduced activity of the folate methylation cycle seems to be an attractive working hypothesis in the aetiology of NTDs. This genetic metabolic defect can be overcome by treatment with folic acid and/or vitamin B12.