Current Endoglin-Deficient Mouse Models for Brain Arteriovenous Malformation - Abstract
The Endoglin (ENG) gene encodes a major glycoprotein that belongs to the
TGF? superfamily. In humans, mutations in the ENG gene are associated with an
autosomal dominant disease, hereditary hemorrhagic telangiectasia (HHT). HHT
patients have a higher incidence of brain arteriovenous malformation (bAVM) than the
normal population. Because bAVM has a tendency to rupture and cause intracranial
hemorrhage, having a better understanding of bAVM pathogenesis is crucial. In recent
years, Eng-deficient bAVM mouse models have been established. This review looks at
current models and how they are being utilized to study disease mechanisms and test
new therapies.