» Articles » PMID: 12790882

Pathobiology and Genetics of Neural Tube Defects

Overview
Journal Epilepsia
Specialty Neurology
Date 2003 Jun 7
PMID 12790882
Citations 17
Authors
Affiliations
Soon will be listed here.
Abstract

Purpose: Neural tube defects (NTDs), including spina bifida and anencephaly, are common congenital malformations that occur when the neural tube fails to achieve proper closure during early embryogenesis. Based on epidemiological and clinical data obtained over the last few decades, it is apparent that these multifactorial defects have a significant genetic component to their etiology that interacts with specific environmental risk factors. The purpose of this review article is to synthesize the existing literature on the genetic factors contributing to NTD risk.

Results: To date, there is evidence that closure of the mammalian neural tube initiates and fuses intermittently at four discrete locations. Disruption of this process at any of these four sites may lead to an NTD, possibly arising through closure site-specific genetic mechanisms. Candidate genes involved in neural tube closure include genes of the folate metabolic pathway, as well as those involved in folate transport.

Conclusions: Although extensive efforts have focused on elucidating the genetic risk factors contributing to the etiology of NTDs, the population burden for these malformations remains unknown. One group at high risk for having children with NTDs is epileptic women receiving antiepileptic medications during pregnancy. Efforts to better understand the genetic factors that may contribute to their heightened risk, as well as the pathogenesis of neural tube closure defects, are reviewed herein.

Citing Articles

Identification of immune-related biomarkers in embryos with neural tube defects via a bioinformatics analysis.

Huang Q, Yang L, Nong B, Gan H, Wu H, Li M Ann Transl Med. 2022; 10(9):521.

PMID: 35928755 PMC: 9347061. DOI: 10.21037/atm-22-1273.


Risk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia.

Abebe M, Afework M, Emamu B, Teshome D Pediatric Health Med Ther. 2021; 12:499-506.

PMID: 34744469 PMC: 8565987. DOI: 10.2147/PHMT.S332561.


Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.

Ramaekers V, Sequeira J, Thony B, Quadros E Autism Res Treat. 2020; 2020:9095284.

PMID: 33294225 PMC: 7688371. DOI: 10.1155/2020/9095284.


Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.

Ramaekers V, Sequeira J, DiDuca M, Vrancken G, Thomas A, Philippe C Autism Res Treat. 2019; 2019:7486431.

PMID: 31316831 PMC: 6604479. DOI: 10.1155/2019/7486431.


The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.

Laforgia N, Di Mauro A, Favia Guarnieri G, Varvara D, De Cosmo L, Panza R Oxid Med Cell Longev. 2019; 2018:7404082.

PMID: 30693064 PMC: 6332879. DOI: 10.1155/2018/7404082.