title: Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall.
abstract: Marfan syndrome (MFS) is a connective tissue disorder with multiple organ manifestations. The genetic cause of this syndrome is the mutation of the FBN1 gene, encoding the extracellular matrix (ECM) protein fibrillin-1. This genetic alteration leads to the degeneration of microfibril structures and ECM integrity in the tunica media of the aorta. Indeed, thoracic aortic aneurysm and dissection represent the leading cause of death in MFS patients. To date, the most effective treatment option for this pathology is the surgical substitution of the damaged aorta. To highlight novel therapeutic targets, we review the molecular mechanisms related to MFS etiology in vascular smooth muscle cells, the foremost cellular type involved in MFS pathogenesis.
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy.|Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy.
authors.forename: Gianluca L
authors.initials: GL
authors.lastname: Perrucci
authors.affiliation: Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy.
authors.forename: Erica
authors.initials: E
authors.lastname: Rurali
authors.affiliation: Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy.
authors.forename: Aoife
authors.initials: A
authors.lastname: Gowran
authors.affiliation: Department of Cardiology, Marfan Clinic®, "Luigi Sacco" University of Milan, Via G.B. Grassi 74, 20157, Milan, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pini
authors.affiliation: Cardiovascular Surgery Department, "Luigi Sacco" University of Milan, Via G.B. Grassi 74, 20157, Milan, Italy.|FoRCardioLab, "Luigi Sacco" University of Milan, Via G.B. Grassi 74, 20157, Milan, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Antona
authors.affiliation: Department of Vascular Surgery, San Raffaele Scientific Institute Hospital, Vita-Salute University, Milan, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Chiesa
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy. giulio.pompilio@ccfm.it.|Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy. giulio.pompilio@ccfm.it.|Department of Cardiovascular Surgery, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy. giulio.pompilio@ccfm.it.
authors.forename: Giulio
authors.initials: G
authors.lastname: Pompilio
authors.affiliation: Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino-IRCCS, Via C. Parea 4, 20138, Milan, Italy. patrizia.nigro@ccfm.it.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Nigro
mesh_terms: D000783:Aneurysm / Q000150:complications* / Q000473:pathology*; D000818:Animals; D001011:Aorta / Q000473:pathology*; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000473:pathology*; D040542:Mechanotransduction, Cellular; D009131:Muscle, Smooth, Vascular / Q000473:pathology*; D032389:Myocytes, Smooth Muscle / Q000473:pathology*
keywords: Angiotensin II; MMPs; Mechanotrasduction; MicroRNA; TGF-beta