UH lab identifies first gene mutations in blood vessel disease

An international research team headed by the University of Hawaii's Laboratory of Matrix Pathobiology has identified the first mutations responsible for a genetic disease that causes skin lesions, blindness and premature hardening of the arteries. The paper announcing the discovery appears in the June 1 issue of the journal Nature Genetics.

While relatively rare -- occurring in about one in 25,000 live births -- pseudoxanthoma elasticum, or PXE, can have devastating consequences, says Charles Boyd, a researcher in the UH Pacific Biomedical Research Center and director of the matrix pathobiology lab. "Discovery of responsible mutations makes it possible to screen for the disorder while its victims are still young enough for dietary interventions to lessen the impact of the disease," says Boyd.

In PXE, elastin fibers in the matrix, or space between cells, of the skin, retina and arteries become calcified and lose their resilience. Onset of the disease is usually signaled first by a rash of yellow papules on the skin, especially around the neck, groin and thighs. In more advanced forms, the skin sags and wrinkles, giving the appearance of premature aging. The disease is also characterized by pain and cramps related to poor circulation in the legs, hypertension and stroke. Rupture of a membrane at the back of the retina causes bleeding that leads to blindness, and premature arteriosclerosis can necessitate heart bypass surgery in patients still in their 20s. Gastro-intenstinal bleeding from ruptured blood vessels is a frequent cause of PXE-related death.

"PXE affects a small percentage of the population overall, but it may represent a larger proportion of people with cardiovascular disease," says Boyd. "If we can screen for the mutation and use intervention that moderates development of the disease, we can reduce the overall incidence of death from heart disease." Locally, Boyd hopes that such efforts could help reduce the high rate of heart disease among N

Contact: Cheryl Ernst
University of Hawaii

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