By DAVID WILLIAMSON
UNC-CH News Services
CHAPEL HILL -- Unsightly, defective teeth -- but extraordinarily strong bones -- result from an unusual genetic mutation identified, located and cloned for the first time by researchers at the University of North Carolina at Chapel Hill School of Dentistry and Wake Forest University.
"Tricho-dento-osseous syndrome is so rare that it probably only affects a few thousand people around the world, and we are confident that the few extended families we found it in are related even if they don't know it," said Dr. J. Timothy Wright, professor of pediatric dentistry at UNC-CH. "Still, our work on TDO syndrome is potentially extremely important because it could give us clues about how to treat osteoporosis more successfully."
Osteoporosis -- the thinning of hip and other bones -- eventually affects everyone who lives into later life, Wright said. For many of the oldest, the condition becomes a life-threatening medical emergency, and it promises to become a greater problem nationally as baby boomers age.
"Bones of people with TDO, however, are so dense they fracture only rarely," he said. "Affected people are born with kinky, curly hair, and their chief health problem is that they develop little or no enamel on their teeth, which can become painful and very unsightly."
"If we can understand how the mutation stimulates bone density, we might be able to take advantage of it to help older patients."
A report the findings appears in the March issue of Human Molecular Genetics. Besides Wright, authors are Drs. Thomas C. Hart and Donald W. Bowden, associate professor of pediatrics and professor of biochemistry, respectively, and graduate student Jennifer Price, all at Wake Forest.
Researchers extensively studied six large families, including 46 people
affected by TDO and
Contact: David Williamson
University of North Carolina at Chapel Hill