Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome

Significance Marfan syndrome (MFS) is a connective tissue disorder caused by mutations of fibrillin-1 (FBN1), the main component of extracellular matrix microfibrils. FBN1 mutations predispose to thoracic aortic aneurysm and rupture and are associated with increased TGFβ signaling. TGFβ is secreted from cells complexed with latent TGFβ binding protein (LTBP), a protein that targets TGFβ to the ECM through interaction with fibrillin-1. One...