TSRHC Researchers Discover Genes Associated with Idiopathic Scoliosis

Aug. 24, 2011 - PRLog -- 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 http://www.tsrhc.org/pediatric-orthopedics.htm, have identified new genetic markers associated with idiopathic scoliosis http://www.tsrhc.org/scoliosis-spine.htm, the most common spinal deformity in children. The results highlight genetic factors implicated in increased risk of idiopathic scoliosis, and point to two genes in particular that are involved in neurologic development. With no known cause or cure, idiopathic scoliosis poses a significant health burden to the pediatric population. The condition affects approximately two to three 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 idiopathic scoliosis http://www.tsrhc.org/genetic-scoliosis-research.htm and is a result of an ongoing five-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 http://www.tsrhc.org/center-for-excellence-in-spine-resea.... 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 idiopathic scoliosis, the research team conducted genome-wide association studies that discovered new potential disease-influencing genes in 419 Texas families with a confirmed idiopathic scoliosis diagnosis. Further analyses of these findings were conducted in more than 1,000 additional idiopathic scoliosis 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 that appeared in the April 2011 issue of the Human Molecular Genetics journal.

“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 idiopathic scoliosis. A condition first documented by ancient Greeks, idiopathic scoliosis 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 scoliosis treatment methods http://www.tsrhc.org/scoliosis-treatment.htm 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.

More help is needed in the groundbreaking research to find and fight the causes of scoliosis http://www.tsrhc.org/scoliosis-patient-education.htm. TSRHC is asking healthy women, ages 18-45, to give a small sample of blood to use as a healthy sample to compare with those who have the disease. To learn more or schedule a donation time, call (214) 559-7869.

Funding for the Research
This research was funded through a grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (Grant R01 HD052973). The hospital’s work also is made possible through the establishment of the Pediatric Molecular Genetics Research Laboratory at  Texas Scottish Rite Hospital for Children, which was funded by: The Crystal Charity Ball 1997; Beneke Companies; Horace C. Cabe Foundation; The Cain Foundation, in honor of Effie Marie Cain; The Florence Foundation; The Hillcrest Foundation, founded by Mrs. W. W. Caruth, Sr.; Hoblitzelle Foundation; The Hoglund Foundation; Kimberly Clark Corporation; Rauscher Pierce Refsnes; Mr. and Mrs. Jack Reynolds; The Harold Simmons Foundation; Mr. and Mrs. Douglas McWilliams Smith; The Roy and Christine Sturgis Charitable and Educational Trust; USLIFE Companies; and Mr. and Mrs. Terry Worrell.

About TSRHC:
Texas Scottish Rite Hospital for Children is one of the nation's leading pediatric centers for the treatment of orthopaedic conditions, such as scoliosis http://www.tsrhc.org/scoliosis-spine.htm, clubfoot http://www.tsrhc.org/clubfoot-foot-disorders.htm, hip dysplasia http://www.tsrhc.org/hip-dyslasia-perthes.htm and hand disorders http://www.tsrhc.org/hand-disorders.htm, certain related neurological disorders and learning disorders, such as dyslexia. Admission is open to Texas children from birth up to 18 years of age. Patients receive treatment regardless of the family's ability to pay. For more information, to volunteer or to make a donation, please call (214) 559-5000 or (800) 421-1121 or visit http://www.tsrhc.org.