Work

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

Year: 2013

Type: article

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.

Source: Journal of Clinical Investigation

DOI: 10.1172/jci73906

Authors: Frank Davis, Debra L. Rateri, Alan Daugherty

Institution: University of Kentucky

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Saha Cardiovascular Research Center, University of Kentucky, National Institutes of Health, Directorate for Biological Sciences, National Heart, Lung, and Blood Institute