Study: Random Genetic Mutations Can Cause Spina Bifida

A new study says spina bifida can be caused by naturally occurring and random genetic mutations early in embryonic development. Research conducted at University College London (UCL) and published this month in Nature Communications centered around so-called “mosaic mutations” in mice, mutations that weren’t inherited from either parent. Mosaic mutations instead occur randomly during normal cell division.

Scientists at UCL Great Ormond Street Institute of Child Health studied mutations in the Vangl2 gene, which contains the information used to create spinal cord tissue. The presence of Vang12 mutations in 16 percent of a mouse’s developing spinal cord cells was enough to cause the mouse to develop spina bifida.

Researchers added that their findings — that genetic mutations resulting in spina bifida can and do occur randomly — could ease the guilt of parents who feel responsible for passing spina bifida to their children.

Principle Investigator Gabriel Galea, Ph.D., UCL Great Ormond Street Institute of Child Health, said about the study, “Some environmental factors are known to increase the risk of these conditions occurring, and very few affected individuals or their parents receive a meaningful genetic diagnosis. The discovery that mosaic mutations, which cause spina bifida, may not be inherited from either parent, and are not necessarily present in blood or saliva commonly used for genetic testing, may explain why.”

Spina bifida occurs very early in a baby’s development when the neural tube fails to properly develop or close. The Spina Bifida Association says approximately 166,000 people in the United States have spina bifida, and each year more than 300,000 babies worldwide are born with spina bifida.


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