Physicians have recognized scoliosis, the abnormal curvature of the spine, since the time of Hippocrates, but its causes have remained a mystery -- until now. For the first time, researchers have discovered a gene that underlies the condition, which affects about 3 percent of all children.
The new finding lays the groundwork for determining how a defect in the gene -- known as CHD7 -- leads to the C- and S-shaped curves that characterize scoliosis. The gene's link to scoliosis was identified by scientists at Washington University School of Medicine in St. Louis, working in collaboration with investigators at the University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, both in Dallas, Rutgers State University of New Jersey and the University of Iowa. The group published its results in May in the American Journal of Human Genetics.
"Hopefully, we can now begin to understand the steps by which the gene affects spinal development," says Anne Bowcock, Ph.D., professor of genetics, of medicine and of pediatrics. "If we understand the genetic basis of the condition, we can theoretically predict who is going to develop scoliosis and develop treatments to intervene before the deformity sets in. It may take many years to accomplish these goals, but I think it will eventually happen."
The researchers have traced a defect in CHD7 to idiopathic scoliosis, the form of the condition for which there is no apparent cause. It is the most common type of scoliosis, occurs in otherwise healthy children and is typically detected during the growth spurt that accompanies adolescence.
Although scientists have known for years that scoliosis runs in families, its pattern of inheritance has remained unclear. That's because the condition is likely caused by several different genes that work in concert with one another -- and the environment -- to cause scoliosis. Bowcock predicts that scientists will soon find othe
Contact: Caroline Arbanas
Washington University School of Medicine