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

revealed that patients with specific mutations in both fibrillin-1 and fibrillin-2 had four times the risk of severe scoliosis than people without the genetic errors. The researchers used a new cost-effective method they developed that reduced the cost of sequencing each patient's genes to about $30 from $3,000-4,000.

To date, scientists have identified more than 600 mutations in fibrillin-1. Among the most serious are the mutations that produce Marfan syndrome, a condition that can cause the long bones of the body to overgrow and can weaken the body's connective tissue.

"Some variants of this important gene are associated with unusual tallness," Gurnett said. "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."

Clinical trials are underway in patients with Marfan syndrome to see whether drugs that block TGF-beta, a growth pathway controlled by fibrillin-1, can help treat the disorder. Gurnett and her colleagues are watching to see if the drugs affect growth of the spine. If they do, researchers may investigate using them to prevent scoliosis.

The researchers continue to look for additional genetic risk factors.

"We're very confident that genetic studies are going to open up new avenues for diagnosis and treatment of scoliosis," said coauthor Matthew Dobbs, MD, professor of orthopaedic surgery, who treats patients at St. Louis Children's Hospital and Shriners Hospital.

"We want to create a genetic testing panel that we can use to more accurately predict who will need treatment," Gurnett said. "If we can develop effective treatments and apply them early enough, we might one day be able to prevent the need for surgeries."


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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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