Researchers at Texas Scottish Rite Hospital for Children (TSRHC), one of the nation’s leading pediatric centers for the research and treatment of orthopaedic conditions, have identified new genetic markers associated with idiopathic scoliosis (IS), the most common spinal deformity in children. The results highlight genetic factors implicated in increased risk of IS, and point to two genes in particular that are involved in neurologic development. With no known cause or cure, IS poses a significant health burden to the pediatric population. The condition affects approximately 2 to 3 percent of school-age children in the United States and costs an estimated several billion dollars in surgical treatment each year.
The new discovery follows the research team’s identification, in 2007, of the first gene associated with IS and is a result of an ongoing 5-year study begun in 2008 at the Sarah M. and Charles E. Seay/Martha and Pat Beard Center for Excellence in Spine Research at TSRHC. The research, led by Carol Wise, Ph.D., director of molecular genetics at TSRHC, is funded by the National Institutes of Health.
Following earlier family-based studies with the common goal of identifying genes that contribute to IS, the research team conducted genome-wide association studies that discovered new potential disease-influencing genes in 419 Texas families with a confirmed IS diagnosis. Further analyses of these findings were conducted in more than 1,000 additional IS cases and controls from Texas and other parts of the United States.
Most significant findings centered on two additional genes, CHL1 and DSCAM, which play a role in the neurologic and spinal systems. These findings will allow the medical community to form new hypotheses to explain what causes the condition and provide tools for future research. Dr. Swarkar Sharma is the lead author of the study.
“This study provides the most definitive link yet between the neurological and spinal system and scoliosis,” said Dr. Wise. “For many decades scoliosis has been addressed as a disease of the bones and muscles. This research suggests that the nervous system may be important in the disease and is pointing us toward genes that tell the patient’s nerves how to grow. We believe the study will allow us to narrow our research focus on the path toward a brighter future for our young patients.”
Most often seen in otherwise healthy children, idiopathic scoliosis is an S- or C-shaped curvature of the spine, as viewed from the front, which develops as the child grows. Onset typically occurs during the rapid adolescent growth period, and children who are still growing, particularly girls, are at the greatest risk for developing severe IS. A condition first documented by ancient Greeks, IS affects populations worldwide.
“This discovery lays additional groundwork for future research that will hopefully identify the specific abnormalities which cause the spine curvature,” said Dr. Tony Herring, chief of staff at TSRHC. “When we understand these mechanisms, we may be able to develop improved prevention and treatment methods.”
With expert researchers, biomedical engineers, physicians, staff, and patients all under the same roof, TSRHC has a record of multidisciplinary collaboration that generates an exceptional number of patents, discoveries, and improved treatments for patients. The hospital’s prestigious research efforts and innovative treatment methods make it a leader in spine research and have allowed the hospital and its staff to significantly improve care of young patients with spinal deformities throughout Texas, the United States, and the world.
Illustration: Microsoft clipart.
Texas Scottish Rite Hospital for Children News Release (08/08/11)
Business Wire (08/08/11)
Abstract (Human Molecular Genetics; 20(7), 1456-1466 (01/07/11))