First Gene Linked to Scoliosis Identified -- MEDICA - World Forum for Medicine

First Gene Linked to Scoliosis Identified

Picture: X-ray of scoliosis

A defect in the gene CHD7 is
one reason why a spine is shaped
like an S; © Washington University

The condition affects about three percent of 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. "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 at Washington University School of Medicine in St. Louis. "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.

The researchers collected data on 52 families with a history of scoliosis in at least two members. The patients had an average spinal curvature of 40 degrees and did not have any illnesses, which can also involve scoliosis. The researchers performed genome-wide scans that spelled out the 6 billion letters of genetic code in the affected family members and analyzed the data.

They found that patients with scoliosis very often had a defect in the gene's non-coding region, meaning that the error did not disrupt production of the CHD7 protein. The researchers speculate that this particular mutation alters the binding of a molecule that controls whether the gene is turned on. In this case, they think the gene is turned off more often than it should be, which reduces the amount of CHD7 protein produced. The researchers will continue to look for genetic variations involved in scoliosis by studying additional families with the condition.; Source: Washington University in St. Louis