Open AccessTGF-beta-dependent mechanisms of patho genesis of Marfan syndrome and related disorders
Author(s) -
A. S. Rudoy
Publication year - 2009
Publication title -
arterialʹnaâ gipertenziâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 5
eISSN - 2411-8524
pISSN - 1607-419X
DOI - 10.18705/1607-419x-2009-15-2-223-226
Subject(s) - marfan syndrome , fibrillin , connective tissue , connective tissue disorder , medicine , joint hypermobility , pathogenesis , pathophysiology , transforming growth factor , transforming growth factor beta , aortic aneurysm , aortic dissection , pathology , anatomy , aorta
Recent research on the molecular physiology of fibrillin and the pathophysiology of Marfan syndrome and related connective tissue disorders has changed our understanding of this pathology by demonstrating changes in growth factor signalling and in matrix-cell interactions. Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1. Fibrillin-1 contributes to the regulated activation of the cytokine TGF-ß, and enhanced signaling is a consequence of fibrillin-1 deficiency. Thereby, increased TGF-ß signaling may contribute to the multisystem pathogenesis of Marfan syndrome, including the development of myxomatous changes of the atrioventricular valve, aortic aneurysm and dissection, joint hypermobility syndrome. These data suggest that anti-TGF-β therapeutic strategy for patients with Marfan syndrome can be useful in prevention of the major life-threatening manifestation of this disorder.