Betaglycan (TGFBR3) upregulation correlates with increased TGF- ß signaling in Marfan patient fibroblasts in vitro

Marfan syndrome (MFS) is a connective tissue disorder that is characterized by abnormalities in the skeletal, ocular, pulmonary, nervous and cardiovascular system.1 –3 The most severe cardiovascular manifestation of MFS is the development of aortic aneurysms (AA), predominantly thoracic AA, which can lead to rupture associated with high mortality.4,5 The syndrome is caused by mutations in the fibrillin-1 gene (FBN1). Fibrillin-1 constitutes the core of microf ibrils, which provide structural stability to extracellular matrix (ECM) and are also responsible for the elastic properties of the vessel wall.

Source: Cardiovascular Pathology - November 4, 2017 Category: Cardiology Authors: Menno Evert Groeneveld, Natalija Bogunovic, Ren é John Philip Musters, Geert Jan Tangelder, Gerard Pals, Willem Wisselink, Dimitra Micha, Kak Khee Yeung Source Type: research