Investigations into the etiology of neural tube defects

• Published in: Birth defects research. Part C. Embryo today 2004-12, Vol.72 (4), p.330-344
• Main Authors: Cabrera, Robert M., Hill, Denise S., Etheredge, Analee J., Finnell, Richard H.
• Format: Article
• Language: English
• Subjects: Central Nervous System - embryology; Diabetes Complications; Drug-Related Side Effects and Adverse Reactions; Female; Fever - complications; Folic Acid - metabolism; Folic Acid - therapeutic use; Fumonisins - metabolism; Fumonisins - toxicity; Humans; Neural Tube Defects - chemically induced; Neural Tube Defects - etiology; Neural Tube Defects - prevention & control; Obesity - complications; Pregnancy; Risk Factors; Teratogens - metabolism; Teratogens - toxicity; Vitamin B 12 - adverse effects; Vitamin B 12 - metabolism
• ISSN: 1542-975X; 1542-9768
• DOI: 10.1002/bdrc.20025

Neural tube defects (NTDs) are serious malformations affecting approximately 1 per 1000 births, yet the mechanisms by which they arise are unknown. There have been consistent efforts in many fields of research to elucidate the etiology of this multifactorial condition. While no single gene has been identified as a major independent risk factor for NTDs, candidate genes have been proposed that may modify the effects of maternal and/or embryonic exposures. Folate supplementation effectively reduces the occurrence of NTDs and, consequently, has focused much research on metabolism of folate‐related pathways during pregnancy and development. Further understanding of normal development and how teratogens can perturb these orchestrated processes also remains at the fore of modern scientific endeavors. The composite of these factors remains fragmented; the aim of this review is to provide the reader with a summary of sentinel and current works in the body of literature addressing NTD disease etiology. Birth Defects Research (Part C) 72:330–344, 2005. © 2005 Wiley‐Liss, Inc.