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Severe scoliosis linked to rare mutations
Date:6/13/2014

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists have found. The research at Washington University School of Medicine in St. Louis has identified genetic risk factors that predispose children to develop s-shaped curves in their spines that are dramatic enough to require surgery.

"We've had a difficult time finding ways to predict who will develop severe scoliosis, and these newly identified mutations have the potential to be very helpful," said senior author Christina A. Gurnett, MD, PhD.

The findings appear online in Human Molecular Genetics.

Drugs currently in clinical trials block a major growth pathway that these mutated genes, fibrillin-1 and fibrillin-2, control. If the same pathway is involved in scoliosis, doctors might be able to use these drugs to prevent scoliosis in some children with these mutations.

One to 3 percent of the general population has some mild curvature of the spine. In about one in 10,000 children, scoliosis will produce curvature so pronounced that it requires corrective surgery.

"These children often don't have any curvature of the spine early in adolescence, but then they go through a growth spurt, and that's when the curve appears," said Gurnett, associate professor of neurology. "Others have tried to predict severe disease using gender, age of onset and type of spine curve but haven't been very successful."

In 91 patients with acute scoliosis, the scientists sequenced the portions of the patients' DNA that encode proteins.

The most consistently mutated gene in the group was fibrillin-1, which makes a protein important to the tissues that connect many components of the body. A related gene, fibrillin-2, also often was mutated.

Additional sequencing of those genes in 852 patients with scoliosis and 669 subjects with healthy spines
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Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
Source:Eurekalert  

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