Arterial endothelium-specific activin receptor-like kinase 1 expression suggests its role in arterialization and vascular remodeling

Circ Res. 2003 Oct 3;93(7):682-9. doi: 10.1161/01.RES.0000095246.40391.3B. Epub 2003 Sep 11.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVM). Two genes are linked to HHT: endoglin (ENG) in HHT1 and activin receptor-like kinase 1 (ACVRL1; ALK1) in HHT2. Although both genes are involved in the transforming growth factor beta signaling pathways, the pathogenetic mechanisms for HHT remain elusive. It was shown that mutations in the Alk1 gene in mice and zebrafish resulted in an embryonic lethal phenotype due to severe dilation of blood vessels. We created a novel null mutant mouse line for Alk1 (Alk1lacZ) by replacing its exons, including the one that encodes the transmembrane domain, with the beta-galactosidase gene. Using Alk1lacZ mice, we show that Alk1 is predominantly expressed in developing arterial endothelium. Alk1 expression is greatly diminished in adult arteries, but is induced in preexisting feeding arteries and newly forming arterial vessels during wound healing and tumor angiogenesis. We also show that hemodynamic changes, which require vascular remodeling, may regulate Alk1 expression. Our studies suggest the role of Alk1 signaling in arterialization and remodeling of arteries. Contrary to the current view of HHT as venous disease, our findings suggest that the arterioles rather than the venules are the primary vessels affected by the loss of an Alk1 allele, and that blood vessels with reduction in Alk1 expression may harbor defects in responding to demands for vascular remodeling.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Activin Receptors, Type I / genetics
  • Activin Receptors, Type I / metabolism*
  • Activin Receptors, Type II
  • Animals
  • Arteries / embryology
  • Arteries / enzymology*
  • Arteries / growth & development
  • Blood Flow Velocity
  • Embryo, Mammalian / enzymology
  • Embryo, Mammalian / metabolism
  • Endothelium, Vascular / enzymology*
  • Gene Expression Regulation, Developmental
  • Gene Expression Regulation, Enzymologic
  • Immunohistochemistry
  • In Situ Hybridization
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred ICR
  • Mice, Inbred Strains
  • Mice, Transgenic
  • Telangiectasia, Hereditary Hemorrhagic / enzymology
  • Telangiectasia, Hereditary Hemorrhagic / pathology
  • Veins / enzymology

Substances

  • Activin Receptors, Type I
  • Activin Receptors, Type II
  • Acvrl1 protein, mouse