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Vascular smooth muscle cells in Marfan syndrome aneurysm: the broken bricks in the aortic wall

Author:
Perrucci, Gianluca L., Rurali, Erica, Gowran, Aoife, Pini, Alessandro, Antona, Carlo, Chiesa, Roberto, Pompilio, Giulio, Nigro, Patrizia
Source:
Cellular and molecular life sciences 2017 v.74 no.2 pp. 267-277
ISSN:
1420-682X
Subject:
Petrorhagia, aneurysm, aorta, death, etiology, extracellular matrix, genes, mutation, myocytes, pathogenesis, patients, smooth muscle
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.
Agid:
5739500