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Updated: Jun 8, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
Published on: June 28, 2024
Gene-environment interactions, folate metabolism and the embryonic nervous system
1Laboratory of Neurogenetics & Development, Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY 10065, USA.
Insights
Neural tube defects (NTDs) like anencephaly and spina bifida arise from complex gene-environment interactions. Folic acid supplementation effectively reduces NTD occurrence, and systems-based approaches can personalize prevention strategies.
Area of Science:
- Developmental biology
- Genetics
- Public health
Background:
- Neural tube closure is crucial for embryonic development, forming the brain and spinal cord.
- Defects lead to anencephaly and spina bifida, significant causes of child mortality and morbidity.
- NTDs result from intricate gene-environment interactions, with systems-level understanding still developing.
Purpose of the Study:
- To discuss the evidence and scope of gene-environment interactions in NTD genesis.
- To highlight the potential of a systems-based approach for studying NTD risk factors.
- To explore personalized prevention strategies for NTDs.
Main Methods:
- Review of existing research on neural tube defect etiology.
- Analysis of gene-environment interactions in NTD development.
- Discussion of systems-based research methodologies.
Main Results:
- Folic acid supplementation in early pregnancy significantly reduces NTD incidence.
- Complex interactions between genetic predispositions and environmental factors contribute to NTDs.
- A systems-based approach offers a framework for deeper understanding.
Conclusions:
- NTDs are multifactorial, influenced by both genetic and environmental factors.
- Folic acid remains a key preventive measure for NTDs.
- Future research utilizing systems biology can lead to personalized risk assessment and prevention of NTDs.
Abstract:
Formation of brain and spinal cord requires the successful closure of neural ectoderm into an embryonic neural tube. Defects in this process result in anencephaly or spina bifida, which together constitute a leading cause of mortality and morbidity in children, affecting all ethnic and socioeconomic groups. The subject of intensive research for decades, neural tube defects (NTDs), are understood to arise from complex interactions of genes and environmental conditions, though systems-level details are still elusive. Despite the variety of underlying causes, a single intervention, folic acid supplementation given in the first gestational month, can measurably reduce the occurrence of NTDs in a population. Evidence for and the scope of gene-environment interactions in the genesis of NTDs is discussed. A systems-based approach is now possible toward studies of genetic and environmental influences underlying NTDs that will enable the assessment of individual risk and personalized optimization of prevention.
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