Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview
Article first published online: 29 JAN 2009
Copyright © 2009 Wiley-Liss, Inc.
Birth Defects Research Part A: Clinical and Molecular Teratology
Special Issue: A Festschrift in Honor of Professor R.W. Smithells
Volume 85, Issue 4, pages 274–284, April 2009
How to Cite
Beaudin, A. E. and Stover, P. J. (2009), Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview. Birth Defects Research Part A: Clinical and Molecular Teratology, 85: 274–284. doi: 10.1002/bdra.20553
- Issue published online: 9 APR 2009
- Article first published online: 29 JAN 2009
- Manuscript Accepted: 25 OCT 2008
- Manuscript Revised: 20 OCT 2008
- Manuscript Received: 26 AUG 2008
- PHS. Grant Number: HD059120
- neural tube defect;
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.