Vol 20, No 3 (2013)
Review Article
Published online: 2013-06-01

open access

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The role of transforming growth factor-beta in Marfan syndrome

Kálmán Benke, Bence Ágg, Bálint Szilveszter, Ferenc Tarr, Zsolt B. Nagy, Miklós Pólos, László Daróczi, Béla Merkely, Zoltán Szabolcs
DOI: 10.5603/CJ.2013.0066
Cardiol J 2013;20(3):227-234.

Abstract

The starting point, in Marfan syndrome (MFS) appears to be the mutation of fi brillin-1 gene whose deconstructed protein product cannot bind transforming growth factor beta (TGF-b), leading to an increased TGF-b tissue level. The aim of this review is to review the already known features of the cellular signal transduction downstream to TGF-b and its impact onthe tissue homeostasis of microfibrils, and elastic fi bers. We also investigate current data onthe extracellular regulation of TGF-b level including mechanotransduction and the feedback cycles of integrin-dependent and independent activation of the latent TGF-b complex. Togetherthese factors, by the destruction of the connective tissue fi bers, may play an important role inthe development of the diverse cardiac and extracardiac manifestations of MFS and many of them could be a target of conservative treatment. We present currently investigated drugs for thetreatment of the syndrome, and explore possible avenues of research into pathogenesis of MFS in order to improve understanding of the disease.