Investigations into the etiology of neural tube defects

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...

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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
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Summary: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.
ISSN:1542-975X
1542-9768
DOI:10.1002/bdrc.20025