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Neural Tube Defects, Folic Acid and Methylation

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  • Apolline Imbard

    (Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France
    Metabolic Unit, Department of Clinical Chemistry, VU Free University Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands)

  • Jean-François Benoist

    (Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France)

  • Henk J. Blom

    (Metabolic Unit, Department of Clinical Chemistry, VU Free University Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands)

Abstract

Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To date, animal studies have not provided sufficient information to establish the metabolic and/or genomic mechanism(s) underlying human folic acid responsiveness in NTDs. However, several lines of evidence suggest that not only folates but also choline, B12 and methylation metabolisms are involved in NTDs. Decreased B12 vitamin and increased total choline or homocysteine in maternal blood have been shown to be associated with increased NTDs risk. Several polymorphisms of genes involved in these pathways have also been implicated in risk of development of NTDs. This raises the question whether supplementation with B12 vitamin, betaine or other methylation donors in addition to folic acid periconceptional supplementation will further reduce NTD risk. The objective of this article is to review the role of methylation metabolism in the onset of neural tube defects.

Suggested Citation

  • Apolline Imbard & Jean-François Benoist & Henk J. Blom, 2013. "Neural Tube Defects, Folic Acid and Methylation," IJERPH, MDPI, vol. 10(9), pages 1-38, September.
  • Handle: RePEc:gam:jijerp:v:10:y:2013:i:9:p:4352-4389:d:28874
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    References listed on IDEAS

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    1. Romano, P.S. & Waitzman, N.J. & Scheffler, R.M. & Pi, R.D., 1995. "Folic acid fortification of grain: An economic analysis," American Journal of Public Health, American Public Health Association, vol. 85(5), pages 667-676.
    2. Lifeng Yan & Lin Zhao & Yan Long & Peng Zou & Guixiang Ji & Aihua Gu & Peng Zhao, 2012. "Association of the Maternal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects in Offsprings: Evidence from 25 Case-Control Studies," PLOS ONE, Public Library of Science, vol. 7(10), pages 1-8, October.
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    Cited by:

    1. Dominika Głąbska & Aneta Książek & Dominika Guzek, 2017. "Development and Validation of the Brief Folate-Specific Food Frequency Questionnaire for Young Women’s Diet Assessment," IJERPH, MDPI, vol. 14(12), pages 1-16, December.
    2. Perla Gerges & Tania Bitar & Mirna Hawat & Abbas Alameddine & Michel Soufia & Christian R. Andres & Walid Hleihel, 2020. "Risk and Protective Factors in Autism Spectrum Disorders: A Case Control Study in the Lebanese Population," IJERPH, MDPI, vol. 17(17), pages 1-8, August.

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    More about this item

    Keywords

    neural tube defects; folate; methylation; choline; methionine; homocysteine; MTHFR; B12 vitamin;
    All these keywords.

    JEL classification:

    • B12 - Schools of Economic Thought and Methodology - - History of Economic Thought through 1925 - - - Classical (includes Adam Smith)

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