{"id":27982,"date":"2024-02-27T00:00:00","date_gmt":"2024-02-27T05:00:00","guid":{"rendered":"https:\/\/www.hydroassoc.org\/neural-tube-defects-ntd\/"},"modified":"2024-10-28T12:52:29","modified_gmt":"2024-10-28T16:52:29","slug":"neural-tube-defects-ntd","status":"publish","type":"post","link":"https:\/\/www.hydroassoc.org\/neural-tube-defects-ntd\/","title":{"rendered":"Neural Tube Defects (NTD)"},"content":{"rendered":"\r\n\r\n
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Image of the neural plate and the importance of planar cell polarity.<\/p><\/div>\r\n

By Dr. Jenna Koschnitzky, previous Director of Research Programs, and Noriana Jakopin<\/h4>\r\n

In the first installment of the genetic links to hydrocephalus<\/a> we discussed non-syndromic autosomal recessive hydrocephalus. Here we will be looking at the genetics of neural tube defects<\/strong>, which can lead to hydrocephalus.<\/p>\r\n

The neural tube is the precursor for the brain<\/strong> and spinal cord<\/strong> in developing embryos. Its formation involves fusion of a layer of cells known as the neural plate. Neural tube defects are a result of the abnormal closure of the neural plate. Such defects can lead to hydrocephalus. There are currently two genetic hypotheses in regard to the role of genetics in NTDs: variants in genes involved in planar cell polarity and genes involved in the folate metabolic pathway. In our last genetics blog we talked about the importance of planar cell polarity to normal cell behavior.<\/p>\r\n

Planar cell polarity (PCP)<\/strong> is the proper alignment of cells and their coordinated orientation. This is coordinated by the PCP pathways, which consequently play a role in the coordination of cell behaviors such as proper maintenance of the cell cycle. PCP has been shown to be vital in the closure of the neural tube. FUZ, VANGL1, VANGL2, and CCLZ are genes involved with PCP and PCP pathways, and when mutated, they lead to NTDs. Therefore, PCP is crucial for neural tube closure, and disruptions in these pathways can lead to neural tube defects, which are sometimes associated with hydrocephalus. In fact, it was one of the very interesting topics discussed at our 2016 Post Hemorrhagic Hydrocephalus Workshop<\/a>.<\/p>\r\n

The nutrient folate (or folic acid) is essential for normal cell growth and cell division, and by extension human development. Before and during early pregnancy, a mother’s need for folate increases due to the demands of supporting fetal development. Studies have shown that irregular folate metabolism and the development of the neural tube are directly linked. Insufficient folate levels can impair the normal process of neural tube closure, leading to defects. Maternal folate insufficiency before and during early pregnancy is the most common risk factor for NTDs (Kancherla, 2023<\/a>). This is most likely due to the large role folate plays in early embryonic development and in DNA synthesis, when rapid cell division occurs, including the formation of the neural tube. Taking folic acid supplements before and during pregnancy has been found to reduce the likelihood of Spina Bifida (a type of neural tube defect), which is why the CDC recommends that ALL women capable of becoming pregnant take folate<\/a>!<\/p>\r\n

Mutations in genes are thought to account for up to 70% of NTDs. MTR<\/em>, MTRR<\/em>, MTHFR<\/em>, and MTHFD<\/em> are all genes that code for proteins involved in proper metabolism and transport of folate; variants or mutations in these genes are thus thought to be linked to the incidence of NTDs. Variants in these genes can lead to inefficient folate metabolism, potentially increasing the risk of NTDs, even when maternal folate intake is sufficient.<\/p>\r\n\r\n\r\n

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