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

Blood. 2005 Jan 1;105(1):145-52. doi: 10.1182/blood-2004-02-0464. Epub 2004 Aug 26.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Aorta / drug effects
  • Aorta / metabolism
  • Aorta / pathology
  • Base Sequence
  • Cells, Cultured
  • Dogs
  • Endothelial Cells / metabolism*
  • Endothelial Cells / pathology*
  • Frameshift Mutation / genetics
  • Gene Expression Regulation
  • Humans
  • Molecular Sequence Data
  • Protein Processing, Post-Translational
  • Weibel-Palade Bodies / genetics
  • Weibel-Palade Bodies / metabolism*
  • Weibel-Palade Bodies / pathology
  • von Willebrand Diseases / genetics
  • von Willebrand Diseases / metabolism*
  • von Willebrand Diseases / pathology*
  • von Willebrand Factor / chemistry
  • von Willebrand Factor / genetics
  • von Willebrand Factor / metabolism*

Substances

  • von Willebrand Factor