Characterization of endothelial colony forming cells of von Willebrand disease patients

The endothelium is a key player in cardiovascular and inflammatory disorders. A number of pro-thrombotic and pro-inflammatory mediators are stored in endothelial cell specific organelles known as the Weibel-Palade bodies (WPBs). A major constituent of WPBs is the multimeric glycoprotein von Willebrand factor (VWF) which arrests bleeding by recruiting blood platelets to sites of vascular injury. In previous expression studies we have shown that mutations in VWF may result in intracellular retention of VWF and disturbed formation of WPBs. The aim of the research is to characterize the effect of certain mutations on the cellular phenotype of von Willebrand disease (VWD) patients by the use of endothelial colony forming cells (ECFCs).
These cells can be isolated from peripheral blood of patients and healthy controls and are a valid model for studying biosynthetic and assembly steps of VWF.