New insight into genesis of spina bifida

A group of researchers at the University of California San Diego School of Medicine led an investigation that offers new insight into the causes of spina bifida, the most common structural disorder of the human nervous system.

To uncover the genetic causes of the disease, Gleeson's UC San Diego lab joined with colleagues from across the globe to establish the Spina Bifida Sequencing Consortium in 2015. The consortium began focusing on a tiny deletion in chromosome 22. Chromosome microdeletions refer to a condition in which several genes in a chromosome are missing. The group's target condition, known as 22q11.2del, has been implicated in a number of other disorders. They began looking for 22q11.

The researchers then narrowed the cause among the many genes in the 22q11.2 deletion to a single gene known as CRKL. Gleeson explained that there are nine other genes in this chromosomal region that could have been the cause. He said the team began a process of elimination,"knocking out" each of the mouse genes one-by-one, when they received a fortuitous email from Dolores Lamb from Weil Cornell College of Medicine.

"When we deprived the Crkl mutant female mice of folic acid in their chow, many more of their offspring had neural tube defects, and the severity increased dramatically," Vong explained."This suggests that folic acid taken by pregnant women may not only reduce the risk, but also the severity of neural tube defects in their offspring."

Personalized Medicine Medical Topics Diseases And Conditions Alternative Medicine Epigenetics Birth Defects Children's Health

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