Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

ABSTRACT:

Background

von Willebrand disease (VWD) Vicenza is characterized by low plasma von Willebrand factor (VWF) levels, the presence of ultra-large (UL) VWF multimers and less prominent satellite bands on multimer gels, and the heterozygous amino acid substitution R1205H in the VWF gene. The pathogenesis of VWD Vicenza has been elusive. Accelerated clearance is implicated as a cause of low VWF level.

Objectives

We addressed the question, whether the presence of ultra-large multimers is a cause, or a result of accelerated VWF clearance, or whether it is an unrelated phenomenon.

Patients/methods

We studied the detailed phenotype of three Hungarian patients with VWD Vicenza, expressed the mutant VWF-R1205H in 293T cells and developed a mathematical model to simulate VWF synth

SUBMITTER: Gezsi A 

PROVIDER: S-EPMC3863617 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature