Spina bifida linked to random mutations
Monday February 22nd 2021
Spina bifida may be the result of random genetic mutations early in pregnancy, British scientists have found.
The findings suggest there may not be any hereditable aspect to the disease, a discovery that could make a major difference in genetic counselling of affected families.
Researchers at the UCL Great Ormond Street Institute of Child Health have published their findings in Nature Communications.
A study of laboratory mice found that a mutation in the Vangl2 gene needs to be present in 16% of cells in developing spinal cords to cause spina bifida. This suggests it is a mosaic mutation, they say.
The scientists say they have not yet connected this mutation to the benefits of folic acid, which helps prevent the disease when taken during pregnancy.
Researcher Dr Gabriel Galea said: “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.”
Dr Galea said: “We found that the requirement for cells to talk to each other makes them exquisitely vulnerable to mutations in the signalling pathway that Vangl2 acts in. We now need to understand whether this vulnerability extends to other genes which could cause spina bifida. Detecting these mosaic mutations in living people will require technological advances and careful analysis of tissues resected during surgery.”
Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice Nature Communications 19 February 2021
Tags: Brain & Neurology | Child Health | Childbirth and Pregnancy | Genetics | UK News
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