Insights into metabolic mechanisms underlying folate‐responsive neural tube defects: A minireview
- 29 January 2009
- journal article
- review article
- Published by Wiley in Birth Defects Research Part A: Clinical and Molecular Teratology
- Vol. 85 (4) , 274-284
- https://doi.org/10.1002/bdra.20553
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. Birth Defects Research (Part A) 2009.Keywords
This publication has 136 references indexed in Scilit:
- Cytoplasmic Serine Hydroxymethyltransferase Regulates the Metabolic Partitioning of Methylenetetrahydrofolate but Is Not Essential in MicePublished by Elsevier ,2008
- Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductaseMolecular Genetics and Metabolism, 2007
- Neural tube defects and folate: case far from closedNature Reviews Neuroscience, 2006
- Neural tube defect rates before and after food fortification with folic acidBirth Defects Research Part A: Clinical and Molecular Teratology, 2004
- Incorporation of dUMP into DNA is a major source of spontaneous DNA damage, while excision of uracil is not required for cytotoxicity of fluoropyrimidines in mouse embryonic fibroblastsCarcinogenesis: Integrative Cancer Research, 2004
- Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United KingdomBirth Defects Research Part A: Clinical and Molecular Teratology, 2004
- Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South AmericaAmerican Journal of Medical Genetics Part A, 2003
- Investigation of the effects of folate deficiency on embryonic development through the establishment of a folate deficient mouse modelTeratology, 2002
- A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseNature Genetics, 1995
- Maternal vitamin levels during pregnancies producing infants with neural tube defectsThe Journal of Pediatrics, 1992