Einthoven Laboratory for Experimental Vascular Medicine, Leiden, The Netherlands.
Hamostaseologie. 2010 Aug;30(3):150-5.
Von Willebrand factor (VWF) is a pivotal haemostatic protein mediating platelet adhesion to injured endothelium and carrying coagulation factor VIII (FVIII) in the circulation to protect it from premature clearance. Apart from the roles in haemostasis, VWF drives the formation of the endothelial cell specific Weibel-Palade bodies (WPBs), which serve as a regulated storage of VWF and other thrombotic and inflammatory factors. Defects in VWF could lead to the bleeding disorder von Willebrand disease (VWD). Extensive studies have shown that several mutations identified in VWD patients cause an intracellular retention of VWF. However, the effects of such mutations on the formation and function of its storage organelle are largely unknown. This review gives an overview on the role of VWF in WPB biogenesis and summarizes the limited data on the WPBs formed by VWD-causing mutant VWF.
血管性血友病因子（VWF）是一种重要的止血蛋白，介导血小板黏附于受损的内皮细胞，并在循环中携带凝血因子 VIII（FVIII）以防止其过早清除。除了在止血中的作用外，VWF 还驱动内皮细胞特异性 Weibel-Palade 小体（WPB）的形成，WPB 作为 VWF 和其他血栓形成和炎症因子的受调控的储存库。VWF 的缺陷可导致血管性血友病（VWD）的出血性疾病。广泛的研究表明，在 VWD 患者中鉴定出的几种突变导致 VWF 的细胞内滞留。然而，这些突变对其储存细胞器的形成和功能的影响在很大程度上尚不清楚。本综述概述了 VWF 在 WPB 生物发生中的作用，并总结了由 VWD 致病突变 VWF 形成的 WPB 的有限数据。
