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Finding the Genetic Cause of Spina Bifida

written by: Leigh A. Zaykoski•edited by: Leigh A. Zaykoski•updated: 12/21/2008

Finding the genetic cause of Spina Bifida will be an important scientific discovery. Prevention of this birth defect can occur if scientists are able to find the genetic cause of Spina Bifida and other neural tube defects.

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    Genetic Cause of Spina Bifida: Genetic Variants in Glucose Regulation Genes

    Scientists at the University of Texas Medical School have been working to find the genetic cause of Spina Bifida. One one study, scientists conducted experiments involving twelve different genes. More than 1,500 DNA samples were tested as a part of this study. What these scientists found is that variants in three glucose metabolism genes are associated with Spina Bifida. If variants of these genes are the genetic cause of Spina Bifida, medical professionals can work to reduce the incidence of Spina Bifida by encouraging pregnant women to maintain a healthy weight and by consistently monitoring blood glucose levels throughout pregnancy (University of Texas Health Science Center).

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    Genetic Cause of Spina Bifida: Family History of Spina Bifida

    Researchers at Northwestern University Medical School and Duke University have developed a study known as the Spina Bifida Genetic Research Project in order to try to discover the genetic cause of Spina Bifida. Study participants have contributed DNA samples to the study so that researchers can use the samples to discover genetic variants and mutations that may point to the genetic cause of Spina Bifida. During the course of the project, researchers have found that several traits are common in families who have at least one child with Spina Bifida. Some of these traits include patches of hair and skin that have little pigmentation, premature graying of the hair, deafness, and certain deformities (Science Blog).

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    Genetic Cause of Spina Bifida: VANGL1 Genetic Defect

    One of the most promising discoveries in the search for a genetic cause of Spina Bifida has been the discovery of a gene that causes neural tube defects. The gene is known as the VANGL1 gene and is responsible for coding protein that allows cells to become oriented during fetal development. When this gene is damaged, cells are disoriented and tissues do not develop properly. After discovering this genetic mutation in mice, scientists discovered three mutations that were associated with neural tube defects in children.

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    Genetic Cause of Spina Bifida Reference Materials

    The following reference materials were consulted in preparation of this article on the genetic cause of Spina Bifida. Please consult these sources if you are interested in learning more about this topic.

    University of Texas Health Science Center at Houston (2007, December 20). Genetic Link to Spina Bifida Discovered. Science Daily. Retrieved November 30, 2008. Available: University of Texas Health Science Center at Houston

    Science Blog. "Northwestern Program Aims at Revealing Genetic Causes of Spina Bifida." Published 2000. Retrieved November 30, 2008. Available: Science Blog

    Wired Science. "Discovery Hints at Genetic Component of Spina Bifida." (2007, April 4). Retrieved November 30, 2008. Available: Wired Science