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

作者：Davis Frank; Rateri Debra L; Daugherty Alan^*

来源：Journal of Clinical Investigation, 2014, 124(1): 79-81.

DOI：10.1172/JCI73906

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-beta receptors. These mice exhibited several LDS-associated phenotypes. Despite being functionally defective, the mutated receptors enhanced TGF-beta 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.

• 出版日期2014-1