Spina bifida can be caused by uninherited genetic mutations

Advanced microscopy image of the developing spinal cord - Advanced microscopy image of the developing spinal cord , Credit: Dr Gabriel Galea - Genetic mutations which occur naturally during the earliest stages of an embryo's development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists. The study, published in Nature Communications , explains for the first time how a -mosaic mutation a mutation which is not inherited from either parent (either via sperm or egg cell) but occurs randomly during cell divisions in the developing embryo - causes spina bifida. Specifically the scientists, based at UCL Great Ormond Street Institute of Child Health, found that when a mutation in the gene Vangl2 (which contains information needed to create spinal cord tissue) was present in 16% of developing spinal cord cells of mouse embryos, this was sufficient to produce spina bifida. Researchers say the findings add to scientists- understanding of how and why mosaic mutations can affect and disrupt cell function, including those of neighbouring cells, helping cause birth defects. For parents, the findings may help reduce the burden felt by those who believe their child inherited spina bifida from them via genes, and believe future children could also inherit the condition. This is often discussed during genetic counselling. Spina bifida and current knowledge Spina bifida is one of a group of birth defects called neural tube defects, affecting the brain or spinal cord.