Abstract

Neural tube defects (NTDs) are the second most common birth defect in humans. Despite many advances in the understanding of NTDs and the identification of many genes related to NTDs, the fundamental etiology for the majority of cases of NTDs remains unclear. Planar cell polarity (PCP) signaling pathway, which is important for polarized cell movement (such as cell migration) and organ morphogenesis through the activation of cytoskeletal pathways, has been shown to play multiple roles during neural tube closure. The disrupted function of PCP pathway is connected with some NTDs. Here, we summarize our current understanding of how PCP factors affect the pathogenesis of NTDs.

Highlights

  • Neural tube defects (NTDs), arise when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation

  • For Dvl3, which is required for signals in the Planar cell polarity (PCP) pathway to regulate the convergence and extension (CE) movement during the development of the neural tube, neurulation appeared normal both Dvl3-/- and LtapLp/+(Vangl2/Ltap) mutants, while defects were seen in both Dvl3+/-;LtapLp/ + (7/22, 32%, 5 with craniorachischisis and 2 with exencephaly) and Dvl3-/-;LtapLp/+ mutants [97]

  • What is certain is that the PCP, called tissue polarity, is restricted to epithelial tissues, but is found in mesenchymal cells throughout animal development

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Summary

Background

Neural tube defects (NTDs), arise when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The homozygous Celsr mutants (Crsh and Scy) exhibit severe neural tube defects, such as craniorachischisis, as a result of failure to initiate neural tube closure, providing evidence for the function of the Celsr family that are involved in a planar cell polarity pathway in vertebrate neurulation [87]. For Dvl, which is required for signals in the PCP pathway to regulate the CE movement during the development of the neural tube, neurulation appeared normal both Dvl3-/- and LtapLp/+(Vangl2/Ltap) mutants, while defects were seen in both Dvl3+/-;LtapLp/ + (7/22, 32%, 5 with craniorachischisis and 2 with exencephaly) and Dvl3-/-;LtapLp/+ mutants (in a total of 16 mutants, 6 with craniorachischisis) [97] These findings indicate that Dvl is the most important mammalian Dvl gene for neural tube closure and is sufficient by itself for normal neural tube closure. The concept is commonly accepted that the development of NTDs is related to the gene mutations and the gene interaction with other environment factors, which can explain some inexplicable phenomena related to deficiency [136], inositol [25,137], diabetes [138], We think that the geneenvironmental interaction is an important process in which the environmental factors can affect the gene expression and affect the process of transcription and translation

Conclusions
13. Mitchell LE
20. Loeken MR
23. Kiberstis P
55. Wallingford JB
61. Wallingford JB
91. Pérez-Pomares JM
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