Aortic aneurysms in Loeys-Dietz syndrome - a tale of two pathways?

J Clin Invest. 2014 Jan;124(1):79-81. doi: 10.1172/JCI73906. Epub 2013 Dec 20.

Abstract

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by skeletal abnormalities, craniofacial malformations, and a high predisposition for aortic aneurysm. In this issue of the JCI, Gallo et al. developed transgenic mouse strains harboring missense mutations in the genes encoding type I or II TGF-β receptors. These mice exhibited several LDS-associated phenotypes. Despite being functionally defective, the mutated receptors enhanced TGF-β signaling in vivo, inferred by detection of increased levels of phosphorylated Smad2. Aortic aneurysms in these LDS mice were ablated by treatment with the Ang II type 1 (AT1) receptor antagonist losartan. The results from this study will foster further interest into the potential therapeutic implications of AT1 receptor antagonists.

Publication types

  • Research Support, N.I.H., Extramural
  • Comment

MeSH terms

  • Angiotensin II / physiology*
  • Animals
  • Aortic Aneurysm / metabolism*
  • Female
  • Humans
  • Loeys-Dietz Syndrome / metabolism*
  • Transforming Growth Factor beta / metabolism*

Substances

  • Transforming Growth Factor beta
  • Angiotensin II