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Published on: November 10, 2023
Toward understanding the genetic basis of neural tube defects
1CHU Sainte-Justine Research Center and Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha_kibar@hotmail.com
Abstract:
Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors and their underlying molecular and cellular pathogenic mechanisms remain poorly understood. Animal studies have recently demonstrated an essential role for the planar cell polarity pathway (PCP) in mediating a morphogenetic process called convergent extension during neural tube formation. Alterations in members of this pathway lead to NTDs in vertebrate models, representing novel and exciting candidates for human NTDs. Genetic studies in NTDs have focused mainly on folate-related genes based on the finding that perinatal folic acid supplementation reduces the risk of NTDs by 60-70%. A few variants in these genes have been found to be significantly associated with an increased risk for NTDs. The candidate gene approach investigating genes involved in neurulation has failed to identify major causative genes in the etiology of NTDs. Despite this history of generally negative findings, we are achieving a rapid and impressive progress in understanding the genetic basis of NTDs, based mainly on the powerful tool of animal models.
Insights
Neural tube defects (NTDs) are severe congenital malformations. Research highlights the planar cell polarity pathway
Area of Science:
- Developmental biology
- Genetics
- Congenital malformations
Background:
- Neural tube defects (NTDs) are common severe congenital malformations.
- Their complex etiology involves genetic and environmental factors with poorly understood mechanisms.
- Folic acid supplementation reduces NTD risk, but causative genes remain largely elusive.
Purpose of the Study:
- To explore novel genetic factors in NTD etiology.
- To investigate the role of the planar cell polarity (PCP) pathway in neural tube development.
- To bridge findings from animal models to human NTDs.
Main Methods:
- Review of recent animal studies on neural tube formation.
- Examination of the planar cell polarity (PCP) pathway's role in convergent extension.
- Analysis of genetic studies focusing on neurulation and folate-related genes.
Main Results:
- Animal models show PCP pathway is essential for neural tube closure via convergent extension.
- Alterations in PCP pathway genes cause NTDs in vertebrate models.
- Previous candidate gene approaches for NTDs have yielded limited success.
Conclusions:
- The planar cell polarity (PCP) pathway represents a promising area for understanding NTD genetic basis.
- Animal models are crucial for identifying novel NTD-associated genes.
- Further research into PCP pathway genes may reveal key factors in human NTDs.
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