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Scientists identify first gene linked to scoliosis

r genes involved in the disease.

The CHD7 gene is thought to play a critical role in many basic functions in the cell. The researchers zeroed in on the gene after finding that it is missing or profoundly disrupted in a rare syndrome called CHARGE. Babies born with the syndrome often die in infancy. Those that survive have heart defects, mental retardation, genital and urinary problems, ear abnormalities and deafness, among other problems. They also develop late-onset scoliosis.

"This led us to consider that milder variations of CHD7 may be involved in other types of scoliosis," Bowcock said.

The researchers, led by Carol Wise, Ph.D., at Scottish Rite Hospital, collected data on 52 families with a history of scoliosis in at least two members -- the one who sought treatment and another from earlier generation. The patients had an average spinal curvature of 40 degrees and did not have any illnesses, such as Marfan syndrome or cerebral palsy, 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 change in the amount of the protein produced is subtle, which correlates with the onset of scoliosis, which typically happens very gradually," explains Michael Lovett, Ph.D., professor of genetics and pediatrics. "This particular defect was so highly associated with scoliosis that it is either the real McCoy or is very closely linked to the defect that causes the conditi
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Contact: Caroline Arbanas
arbanasc@msnotes.wustl.edu
314-286-0109
Washington University School of Medicine
25-Jun-2007


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