Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

ABSTRACT:

Background

von Willebrand factor (VWF) binds to subendothelial collagen at sites of vascular injury. Laboratory testing for von Willebrand disease (VWD), however, does not always include collagen binding assays (VWF:CB) and standard VWF:CB assays use type I and/or type III collagen rather than type VI collagen.

Objectives

We report here on several mutations that exclusively alter binding to type VI collagen.

Patients/methods

Healthy controls and index cases from the Zimmerman Program for the Molecular and Clinical Biology of VWD were analyzed for VWF antigen (VWF:Ag), VWF ristocetin cofactor activity and VWF:CB with types I, III and VI collagen. VWF gene sequencing was performed for all subjects.

Results

Two healthy controls and one type 1 VWD subject were hete

SUBMITTER: Flood VH 

PROVIDER: S-EPMC3809952 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature