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Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview

✍ Scribed by Anna E. Beaudin; Patrick J. Stover


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
146 KB
Volume
85
Category
Article
ISSN
1542-0752

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✦ Synopsis


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. © 2009 Wiley‐Liss, Inc.