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

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.

• Authors: Frank Davis, Debra L Rateri, Alan Daugherty
• Journal: The Journal of clinical investigation (J Clin Invest) Vol. 124 Issue 1 Pg. 79-81 (Jan 2014) ISSN: 1558-8238 [Electronic] United States
• PMID: 24355917 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Comment)

Chemical References

• Transforming Growth Factor beta
• Angiotensin II

Topics

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