Science: folic acid protects against spinal splitting at high risk

The study found that spina bifida is associated with the loss of the CRKL gene, and folic acid supplementation can reduce the risk of this birth defect. The results are published in the journal Science.

Spina bifida is a birth defect of the human spine in which a bulge (hernia) of the spinal cord forms on the back of the fetus due to underdevelopment of the vertebrae. This condition affects one in 3,000 newborns. Symptoms depend on the severity of the defect: some have no symptoms, while others may have bowel, bladder, and leg disorders.

In the new study, biologists found that 22q11.2 syndrome, in which there is a loss of the chromosome region of the same name, is associated with a tenfold increased risk of spinal splitting.

"We identified 22q11.2 syndrome in six of the 715 patients studied. This may not seem like a high percentage, but it is by far the most common single genetic variation that may contribute to spinal splitting," the researchers said.

A chromosome is a vast stretch of DNA. The scientists were able to narrow it down even further: an experiment on mice showed that spine splitting occurred in some animals when the Crkl gene was lost (its analogue called CRKL is also found in humans).

The risk of disease was lower if the diet of mice without the Crkl gene contained more folic acid. This result emphasises the importance of folic acid supplements for pregnant women and women planning to conceive. Their intake has previously been linked to a 30-50% reduction in the risk of neural tube defects in the foetus.

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