title: The role of transforming growth factor-beta in Marfan syndrome.
abstract: The starting point, in Marfan syndrome (MFS) appears to be the mutation of fibrillin-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 on the tissue homeostasis of microfibrils, and elastic fibers. We also investigate current data on the extracellular regulation of TGF-b level including mechanotransduction and the feedback cycles of integrin-dependent and independent activation of the latent TGF-b complex. Together these factors, by the destruction of the connective tissue fibers, may play an important role in the 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 the treatment of the syndrome, and explore possible avenues of research into pathogenesis of MFS in order to improve understanding of the disease.
authors.affiliation: Department of Cardiology and Cardiovascular Surgery, Semmelweis University, Budapest, Hungary. kalman.benke@gmail.com.
authors.forename: Kálmán
authors.initials: K
authors.lastname: Benke
authors.forename: Bence
authors.initials: B
authors.lastname: Ágg
authors.forename: Bálint
authors.initials: B
authors.lastname: Szilveszter
authors.forename: Ferenc
authors.initials: F
authors.lastname: Tarr
authors.forename: Zsolt B
authors.initials: ZB
authors.lastname: Nagy
authors.forename: Miklós
authors.initials: M
authors.lastname: Pólos
authors.forename: László
authors.initials: L
authors.lastname: Daróczi
authors.forename: Béla
authors.initials: B
authors.lastname: Merkely
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Szabolcs
mesh_terms: D000818:Animals; D001014:Aortic Aneurysm / Q000209:etiology / Q000378:metabolism / Q000517:prevention & control; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000188:drug therapy / Q000378:metabolism*; D011379:Prognosis; D015398:Signal Transduction / Q000187:drug effects; D016212:Transforming Growth Factor beta / Q000378:metabolism*
chemical_list: D016212:Transforming Growth Factor beta