Enzyme Deficiency Linked to Neural Tube Defect in Mice

May 30 -- FRIDAY, May 29 (HealthDay News) -- An enzyme deficiency in some mothers may be responsible for their giving birth to children with neural tube defects, such as spina bifida, new research has found.

In the study, researchers at the Washington University School of Medicine in St. Louis found neural tube problems in 12 percent to 15 percent of the embryos in female mice with low levels of the enzyme ITPK1. The enzyme helps metabolize inositol, a key compound that helps the neural tube develop into the brain, spinal cord and its surrounding bone and tissue.

Previous studies have found that women with low inositol levels have a greater chance of having a child with spina bifida, a common neural tube defect in humans that can lead to paralysis, spine abnormalities and other health issues.

The neural defects found in the mice embryos included spina bifida and exencephaly, which is similar to anencephaly, a fatal condition in infants in which great sections of the brain, skull and scalp fail to form, lead researcher Monita Wilson, research assistant professor of medicine at Washington University School of Medicine in St. Louis, said in a news release issued by the university. Other mouse embryos in the study were found to have kyphoscoliosis or other skeletal deformities.

The study was expected to be published online this week in the Proceedings of the National Academy of Sciences Early Edition.

Most neural defects can be avoided by women of childbearing age consuming enough folate or folic acid, but some scientists theorize that inositol may play a role in the remaining cases. Researchers in the United Kingdom are conducting a clinical trial on women wanting to have children but who have had previous pregnancies with neural tube defects in which some of the participants take folic acid and inositol or folic acid and a placebo.

Wilson said her team would next test whether giving doses of inositol to female mice genetically altered to have low ITPK1 levels can help decrease neural tube defects in their embryos.

More information

The U.S. Centers for Disease Control and Prevention has more about having a healthy pregnancy.

SOURCE: Washington University School of Medicine in St. Louis, news release, May 25, 2009