Two independent groups of researchers led by Sidney "Wally" Whiteheart, PhD, at the University of Kentucky, and Dr. Charles Lowenstein, at the University of Rochester, have published important studies exploring the role that a gene called STXBP5 plays in the development of cardiovascular disease.
According to Whiteheart, previous genome-wide association studies (GWAS) identified a gene called STXBP5 as a factor that regulates a protein called Von Willebrand factor (VWF).
VWF is an important contributor to normal blood clotting. When the endothelial cells that line a blood vessel are injured, VWF is released into the bloodstream, where it "collects" blood platelets and groups them into bunches as part of the clotting process. VWF abnormalities have been linked to the development of blood clots and other vascular diseases that can cause heart attack and stroke.
"We basically went a step further and looked into how STXBP5 influences blood clotting as a whole," Whiteheart said. "And what we found has the potential for profound impact down the road in identifying genetic risk factors for cardiovascular disease."
Dr. Lowenstein's group focused on the role of STXBP5 in the endothelial cells that line blood vessel walls and release VWF when damaged.... FULL STORY