A group of researchers from a number of universities have identified the first gene--CHD7--associated with adolescent idiopathic scoliosis (AIS), the most common spinal deformity in children, according to results published in the May 2007 issue of the American Journal of Human Genetics.
The medical breakthrough is a result of a decade-long study by scientists and researchers at Texas Scottish Rite Hospital for Children (TSRHC) and Texas Southwestern Medical Center (TSMC), both in Dallas; Washington University School of Medicine in St. Louis (WUSTL); Rutgers State University, New Jersey; and the University of Iowa, Iowa City.
The finding, led by Carol Wise, PhD, the director of molecular genetics and cellular biochemistry at TSRHC, now allows the medical community to form hypotheses to explain what causes the condition that affects up to three percent of school-age children in the United States and costs billions of dollars a year in treatment, according to an article published by Medical News Today.
"This is the most definitive link between genetics and scoliosis that has been reported so far," Wise told Medical News Today. "It has been known for many decades that scoliosis tends to be inherited within families, but now we have found a gene which is clearly related to the development of scoliosis."
According to an article by Caroline Arbanas, senior medical writer at WUSTL, 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, a recognizable genetic pattern of birth defects that occurs in roughly one in every 9,500 births worldwide. Babies born with the syndrome often die in infancy. Those that survive have heart defects, mental retardation, genital and urinary problems, and ear abnormalities and deafness, among other problems. They also develop late-onset scoliosis.
