Discovery Hints At Genetic Component of Spina Bifida

Canadian researchers at McGill University located a gene that causes neural tube defects, including spina bifida, in both mice and humans. They hope the discovery, reportedly the first of its kind, will lead scientists to identify the precise molecular errors that underly neural tube defects.

The gene, designated VANGL1, codes for a protein that enables cells to orient themselves properly during development, Gros explained. A mutation causes cells to lose their orientation, so the tissue in which it is expressed fails to develop properly, causing gaps that leave nerve tissue exposed.

Gros's group first identified the mutation in mice. Now, reporting in the April 5 issue of the New England Journal of Medicine, they say they have found three VANGL1 mutations linked to neural tube defects in children treated at birth defect centers in Italy and France.

"There have been many association studies, some risk factors identified in certain genes, alterations in some genes associated with neural tube defects, but there hasn't been any clearly causative mutation," Gros said. "There hasn't been any situation like this, where you knock out the gene and find a neural defect in the mouse and then find the same thing in humans."

Researchers are not sure whether this current discovery will have any immediate clinical benefit, but I would imagine the new information will make its way into pre-implantation genetic diagnosis tests soon. Current recommendations for preventing neural tube defects include incorporating an adequate amount of folic acid in a pregnant woman's diet, so I wouldn't be surprised to see future studies testing folic acid's effect on pathways involving VANGL1.

Scientists Spot Mutation Linked to Birth Defects [CBC News]

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