The role of GPRASP1 mutations in the pathogenesis of arteriovenous malformations

Abstract

Arteriovenous Malformation (AVM) is a sporadic vascular disease caused by the aberrant direct connection between arterioles and veins, resulting in disorganized blood shunting and oxygen level disparities. Previous research has elucidated some of the genetic underpinnings of AVM and related vascular anomalies. Despite its significant prevalence, current therapeutic approaches remain largely conservative, underscoring the need for a deeper understanding of AVM pathogenesis. This study focuses on the GPRASP1 gene, which encodes the G-protein coupled receptor-associated sorting protein 1 (GASP-1), a molecule implicated in vascular development. Utilizing western blotting and cellular assays, we explored the role of GPRASP1 in angiogenesis, neoplastic formation, and other mechanical aspects of AVM. Our findings suggested that mutations in the GPRASP1 gene may contribute to elevated levels of angiogenic factors and altered cellular functions related to angiogenesis, such as enhanced proliferative and migratory capabilities. This research lays the groundwork for identifying novel therapeutic targets in the management of AVM and offers insights into precision medicine approaches.