According to Connie Lee of the Angioma Alliance, "Cavernous angioma or cerebral cavernous malformation is a common but little known illness that can strike with devastating consequences for individuals in any stage of life. The disease has affected the strongest among us, including prominent athletes such as the Olympic superstar, Florence Griffith Joyner, and the Tour De France champion, Alberto Contador. In its hereditary form, it is especially prevalent in members of the original Hispanic families that settled the American Southwest."
Although the precise number of people with CCM is not known, it's estimated up to 0.5 percent of the U.S. population or about 1.5 million people may have some form of CCM, according to Whitehead. "Statin therapy, particularly, could benefit people who are genetically predisposed to CCM," he said. "Of vital importance is the impact this research might have on the large number of our Hispanic population in the Southwest and Rocky Mountain West who carry a gene mutation, passed from common ancestors, that predisposes them to CCM."
Whitehead and Li suspect statins, such as Zocor, Lipitor, and similar drugs, treat CCM by stabilizing blood vessels so they don't leak.
CCM can be inherited genetically or occur sporadically. Three known genes have been associated with genetic-related CCM, but the role of those genes, Ccm1, Ccm2, and Ccm3, has been unclear. Whitehead and Li demonstrated that without Ccm2, the endothelium, a thin, inner lining of cells that forms a blood vessel's tubular passage for blood flow, does not form properly. When that happens, blood vessels can become weak and dilated, allowing them to leak.
In mice with two distinct mutations of Ccm2, meaning the gene's function was knocked out, the researchers observed increased activity in Rho, an enzyme that regulates endothelium formation. Li and Whitehead theorized that increased Rho activity in endothelial cells might lead
|Contact: Phil Sahm|
University of Utah Health Sciences