Investigations into the etiology of neural tube defects.

Cabrera RM, Hill DS, Etheredge AJ, Finnell RH. Investigations into the etiology of neural tube defects. Birth Defects Research. Part C, Embryo Today 2004 Dec;72(4):330-44. Review.

Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.

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. 2005 Wiley-Liss, Inc.

PMID: 15662706