Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

ABSTRACT: Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-beta superfamily that are essential for vascular integrity. Genetic studies in mice and humans have revealed the pivotal role of TGF-beta signaling during angiogenesis. Through binding to the TGF-beta type II receptor, TGF-beta can activate two distinct type I receptors (ALK1 and ALK5) in endothelial cells, each one leading to opposite effects on endothelial cell proliferatio

SUBMITTER: Fernandez-L A 

PROVIDER: S-EPMC1435660 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature