Neural tube defects, folic acid and methylation

Apolline Imbard1, Jean-François Benoist, Henk J Blom

  • 1Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France. apolline.imbard@rdb.aphp.fr.

Insights

Neural tube defects (NTDs) are linked to folate, B12, and choline metabolism. Supplementing with B12 and other methyl donors alongside folic acid may further reduce NTD risk.

Area of Science:

  • Developmental Biology
  • Nutritional Science
  • Genetics

Background:

  • Neural tube defects (NTDs) are common congenital malformations.
  • Folic acid supplementation reduces NTD prevalence, influencing public health policy.
  • Mechanisms of human folic acid response in NTDs remain unclear from animal studies.

Purpose of the Study:

  • To review the role of methylation metabolism in neural tube defect (NTD) onset.
  • To explore the involvement of folate, B12, and choline pathways in NTDs.
  • To investigate potential benefits of additional methylation donor supplementation.

Main Methods:

  • Literature review of studies on NTDs, folate, B12, choline, and methylation metabolism.
  • Analysis of evidence linking maternal blood levels of B12, choline, and homocysteine to NTD risk.
  • Examination of genetic polymorphisms in methylation pathways associated with NTDs.

Main Results:

  • Evidence suggests B12, choline, and methylation pathways are involved in NTDs.
  • Decreased maternal B12 and increased choline or homocysteine are associated with higher NTD risk.
  • Gene polymorphisms in these pathways are implicated in NTD development.

Conclusions:

  • Methylation metabolism plays a significant role in NTD etiology.
  • Periconceptional supplementation with B12 vitamin, betaine, or other methyl donors may offer additional NTD risk reduction.
  • Further research is warranted to confirm the efficacy of combined supplementation strategies.

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