title: Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview.
abstract: Neural tube defects (NTDs), including anencephaly and spina bifida, arise from the failure of neurulation during early embryonic development. Neural tube defects are common birth defects with a heterogenous and multifactorial etiology with interacting genetic and environmental risk factors. Although the mechanisms resulting in failure of neural tube closure are unknown, up to 70% of NTDs can be prevented by maternal folic acid supplementation. However, the metabolic mechanisms underlying the association between folic acid and NTD pathogenesis have not been identified. This review summarizes our current understanding of the mechanisms by which impairments in folate metabolism might ultimately lead to failure of neural tube closure, with an emphasis on untangling the relative contributions of nutritional deficiency and genetic risk factors to NTD pathogenesis.
authors.affiliation: Cornell University, Division of Nutritional Sciences, Ithaca, NY 14850, USA.
authors.forename: Anna E
authors.initials: AE
authors.lastname: Beaudin
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Stover
mesh_terms: D000818:Animals; D001692:Biological Transport / Q000502:physiology; D050260:Carbohydrate Metabolism / Q000187:drug effects / Q000235:genetics; D002244:Carbon / Q000378:metabolism; D005260:Female; D005492:Folic Acid / Q000378:metabolism / Q000627:therapeutic use*; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000187:drug effects*; D008954:Models, Biological; D009436:Neural Tube Defects / Q000378:metabolism* / Q000517:prevention & control*; D011247:Pregnancy; D016896:Treatment Outcome
chemical_list: D002244:Carbon; D005492:Folic Acid