Storage of Factor VIII Variants with Impaired von Willebrand Factor Binding in Weibel-Palade Bodies in Endothelial Cells
2011
Storage of Factor VIII Variants in Endothelial Cells
publication
Evidence: moderate
Author Information
Author(s): Maartje van den Biggelaar, Eveline A. M. Bouwens, Jan Voorberg, Koen Mertens
Primary Institution: Department of Plasma Proteins, Sanquin Research, Amsterdam, The Netherlands
Hypothesis
Can FVIII variants associated with mild/moderate hemophilia A co-store with von Willebrand factor in endothelial cells?
Conclusion
FVIII variants can be stored in VWF-containing granules despite reduced binding to VWF.
Supporting Evidence
- FVIII variants were found in VWF-containing organelles.
- Binding studies showed varying degrees of FVIII binding defects.
- All FVIII variants retained the ability to traffic to VWF-containing granules.
Takeaway
This study shows that even if some FVIII proteins don't stick well to their helper protein, they can still be stored together in special cell compartments.
Methodology
The study involved analyzing FVIII variants in HEK293 cells and primary endothelial cells to assess their trafficking and storage.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website