International Journal of Pharma and Bio Sciences
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10.22376/ijpbs.2019.10.1.p1-12
Volume 12 Issue 1
2021 (January-March)
Genetic Regulation of Neural Tube Defects: A Contemporary Review.
Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely. It results from failure of the morphogenetic process of neural tube closure (see sidebar). In higher vertebrates, the neural tube is generated by the processes that shape, bend, and fuse the neural plate, and fusion in the dorsal midline progressively seals the neural tube as it forms. If closure is not completed, the neuroepithelium remains exposed to the environment and consequently subject to degeneration and neuronal deficit. Although the unifying feature of open NTDs is incomplete neural tube closure, evidence points to many different possible causes, both genetic and environmental. In humans, it appears that most NTDs are multifactorial, resulting from an additive contribution of several risk factors, which are each individually insufficient to disrupt neural tube closure (the multifactorial threshold model). The type and severity of these open NTDs vary with the level of the body axis affected. Thus, failure of closure in the prospective brain and spinal cord results in anencephaly and open spina bifida (myelomeningocele), respectively. Human NTDs are multifactorial, with contributions from both genetic and environmental factors. The genetic basis is not yet well understood, but several nongenetic risk factors have been identified as having possibilities for prevention by maternal folic acid supplementation. Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes NTDs and have provided details of cellular and morphological events whose regulation is essential for closure. Such models also provide an opportunity to investigate potential risk factors and to develop novel preventive therapies
Somenath Ghosh
Differential expression, Embryogenesis, Factors, Genes, Neurulation, Neural Tube Disorder.
65-71