Researchers Identify Genetic Mutation Associated with Scoliosis

Researchers have found genetic risk factors that can lead to scoliosis or curvature of the spine.

One to three percent of the human population has some sort of curvature of the spine. In some people, the twist is so severe that it requires corrective surgery.

The new research by scientists at the Washington University School of Medicine in St. Louis could help predict the risk of severe scoliosis in children.

"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 Christina A. Gurnett, senior author of the study and 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."

For the study, researchers first sequenced DNA of 91 patients with severe scoliosis. They found that nearly all the patients had altered version gene that codes for fibrillin-1, an important protein in the connective tissues. They found another protein fibrillin 2 to be mutated.

Additional research was conducted on the genome of 852 patients with scoliosis and 669 subjects with healthy spines. Researchers found that patients with specific mutations in fibrillin-1 and fibrillin-2 had four times higher risk of developing a curved spine than people with normal versions of these genes.

Mutations in fibrillin-1 and 2 are associated with several disorders such as Marfan syndrome, where a person has overgrown bones and weak connective tissues.

"Some variants of this important gene are associated with unusual tallness," Gurnett said in a news release. "There appears to be a spectrum of effects caused by changes in the gene, from simple alterations in height to severe scoliosis to more life-threatening conditions such as Marfan syndrome."

Other scientists are conducting clinical trials on drugs that target fibrillin-1 protein to treat Marfan syndrome. Researchers at the Washington University School of Medicine are trying to find if the same drugs can be used to prevent scoliosis.

The study is published in the journal Human Molecular Genetics.

In related news, a 3D printing company has designed customized scoliosis braces for children and young adults. These braces are both flexible and durable.