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University of Iowa News Release


Sept. 5, 2007

UI involved in discovery of first gene associated with scoliosis

Two University of Iowa researchers were among a team of scientists who recently discovered the first gene associated with idiopathic scoliosis, the most common spinal deformity in children.

The gene was discovered through a collaborative study led by researchers at Texas Scottish Rite Hospital for Children in Dallas, Texas. The study results were published in the May issue of the American Journal of Human Genetics.

Idiopathic scoliosis (IS) causes abnormal curvature of the spine and affects about 3 percent of children ages 10 to 16. Although the condition has been recognized for centuries and is known to run in families, the causes of IS have remained a mystery.

"Finding this gene is a first step in deciphering the complex genetics of a complex deformity," said Jose Morcuende (left), M.D., Ph.D., associate professor of orthopaedics and rehabilitation in the UI Roy J. and Lucille A. Carver College of Medicine and one of the UI researchers involved in the study. "This is an exciting finding, but other genes are likely to be involved, and this gene may not be linked to scoliosis in all families."

Although spinal asymmetry is quite common, the number of people who develop pronounced scoliosis (curves of 50 degrees) that requires surgery is much smaller: about 1 in 2,000.

"Many kids are identified as having some curvature, but it is not clear which of them will develop pronounced scoliosis that requires surgical treatment," said Morcuende. "Finding a gene associated with scoliosis may help us refine our ability to predict what will happen to a patient, so that we can target treatments more appropriately."

The Texas research team combed the genomes of patients with scoliosis from families with at least two affected members and homed in on a region of DNA that appeared to be linked to the condition. One gene within that region was particularly interesting because it had already been linked to scoliosis. The gene, CHD7, is disrupted in a rare syndrome with many developmental abnormalities, including late-onset scoliosis.

The scientists analyzed the CHD7 gene in patients with scoliosis and found a mutation in a noncoding region of the gene, which may disrupt production of the CHD7 protein.

Morcuende explained that although the genetic techniques used in this study are now fairly standard, the key to finding genes linked to complex genetic diseases often lies in having a suitable group of affected families from different ethnic populations to be able to tease out significant genetic associations. The UI researchers provided genetic information from Iowa families affected by scoliosis, which allowed the Texas team to confirm their findings.

Researchers from Washington School of Medicine in St. Louis, the University of Texas Southwestern Medical Center and Rutgers State University in New Jersey were also involved in the study.

The new genetic information also provides a starting point for new avenues of research. At the UI, Morcuende and his colleagues plan to examine the CHD7 gene in over 100 Iowa families affected with IS. They hope to determine if the genetic difference is linked to the severity of the scoliosis.

In addition to Morcuende, Val Sheffield, M.D., Ph.D., UI professor of pediatrics and a Howard Hughes Medical Institute investigator, also was part of the study. Most of the Iowa families studied are patients of Stuart Weinstein, M.D., the Ignacio V. Ponseti Chair and Professor of Orthopaedic Surgery in the UI Department of Orthopaedics and Rehabilitation and a leading scoliosis surgeon.

STORY SOURCE: University of Iowa Health Science Relations, 5135 Westlawn, Iowa City, Iowa 52242-1178

MEDIA CONTACT: Jennifer Brown, Health Science Relations, 319-335-9917