Nov. 3, 2000 (Philadelphia) -- With all the advances in medicine, one disease that has defied researchers has been a condition called scleroderma, which can cause significant disability, and possibly death in those affected. Now the enzyme causing it has been identified, and investigators hope that they also have identified a way to suppress this enzyme, and therefore, to treat this baffling disease.
The disease occurs because the body produces excessive amounts of collagen, a tough substance that is normally present in the body's connective tissue, such as tendons and cartilage. Collagen also promotes scarring, though, and the excessive collagen production that is characteristic of scleroderma causes the body to also produce excessive scar tissue.
Scleroderma literally means "hard skin," and in localized scleroderma, the skin is the primary affected organ. The more severe form of the illness, systemic sclerosis, affects several internal organs and can be fatal.
At present, the only treatment of scleroderma is treatment of some of the symptoms; progression of the illness cannot be halted. However, the missing piece of the puzzle may have been found in an enzyme that triggers the excessive collagen and scar tissue, according to Sergio Jimenez, MD, speaking here at the annual meeting of the American College of Rheumatology.
"The public needs to know that scleroderma is a very severe disease, more severe in its mortality rate than breast cancer," Jimenez tells WebMD. "In our study, we have identified the cells responsible for collagen overproduction and subsequent scar tissue, and we have identified a substance that was able to suppress collagen production in cells in the laboratory setting." Jimenez is the Dorrance H. Hamilton professor of medicine at Jefferson Medical College of Thomas Jefferson University here, where he also is a professor of both biochemistry and molecular pharmacology.
In laboratory studies, Jimenez and colleagues identified the enzyme, an offshoot of what's known as protein kinase C, and they also may have identified a substance that suppresses this enzyme. If these initial laboratory studies of scleroderma cells hold true in trials of animals and later humans, a treatment for scleroderma eventually may be developed, he says.