Caracterização estrutural e funcional do fator de von Willebrand: uma perspectiva bioinformática

Abstract

The Von Willebrand Disease (VWD) is a hereditary bleeding disorder caused by a deficiency or dysfunction of the Von Willebrand Factor (VWF), a multimeric glycoprotein essential for hemostasis. VWF is responsible for mediating platelet adhesion and aggregation at sites of vascular injury and also protects factor VIII from degradation in the bloodstream, promoting proper coagulation. VWD is a common but underdiagnosed bleeding disorder, especially in developing countries. The lack of access to proper diagnostics and treatments represents a significant challenge for patients, who may suffer severe complications if the condition is not adequately managed. Increasing awareness and knowledge about the disease, along with improved access to diagnostic tests and effective therapies, are crucial to enhancing the quality of life for patients with VWD. This study aims to characterize the VWF gene and its protein, its signaling pathways, and pharmacological targets using bioinformatics tools and literature review. The data collected allowed for the description of the genetic and biochemical characteristics of VWF in Homo sapiens, which can serve as a basis for future studies aimed at investigating new, more effective, and safer drugs and therapies targeting VWD.