Re-establishment of VWF-dependent Weibel-Palade bodies in VWD endothelial cells

SL Haberichter, EP Merricks, SA Fahs… - Blood, 2005 - ashpublications.org
SL Haberichter, EP Merricks, SA Fahs, PA Christopherson, TC Nichols, RR Montgomery
Blood, 2005ashpublications.org
Type 3 von Willebrand disease (VWD) is a severe hemorrhagic defect in humans. We now
identify the homozygous mutation in the Chapel Hill strain of canine type 3 VWD that results
in premature termination of von Willebrand factor (VWF) protein synthesis. We cultured
endothelium from VWD and normal dogs to study intracellular VWF trafficking and Weibel-
Palade body formation. Weibel-Palade bodies could not be identified in the canine VWD
aortic endothelial cells (VWD-AECs) by P-selectin, VWFpp, or VWF immunostaining and …
Abstract
Type 3 von Willebrand disease (VWD) is a severe hemorrhagic defect in humans. We now identify the homozygous mutation in the Chapel Hill strain of canine type 3 VWD that results in premature termination of von Willebrand factor (VWF) protein synthesis. We cultured endothelium from VWD and normal dogs to study intracellular VWF trafficking and Weibel-Palade body formation. Weibel-Palade bodies could not be identified in the canine VWD aortic endothelial cells (VWD-AECs) by P-selectin, VWFpp, or VWF immunostaining and confocal microscopy. We demonstrate the reestablishment of Weibel-Palade bodies that recruit endogenous P-selectin by expressing wild-type VWF in VWD-AECs. Expression of mutant VWF proteins confirmed that VWF multimerization is not necessary for Weibel-Palade body creation. Although the VWF propeptide is required for the formation of Weibel-Palade bodies, it cannot independently induce the formation of the granule. These VWF-null endothelial cells provide a unique opportunity to examine the biogenesis of Weibel-Palade bodies in endothelium from a canine model of type 3 VWD.
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