Vascular smooth muscle cells in Marfan syndrome aneurysm

the broken bricks in the aortic wall

Gianluca L. Perrucci, Erica Rurali, Aoife Gowran, Alessandro Pini, Carlo Antona, Roberto Chiesa, Giulio Pompilio, Patrizia Nigro

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1-11
Number of pages11
JournalCellular and Molecular Life Sciences
DOIs
Publication statusAccepted/In press - Aug 17 2016

Fingerprint

Marfan Syndrome
Vascular Smooth Muscle
Smooth Muscle Myocytes
Aneurysm
Aorta
Tunica Media
Microfibrils
Thoracic Aortic Aneurysm
Surgical Pathology
Extracellular Matrix Proteins
Connective Tissue
Extracellular Matrix
Dissection
Cause of Death
Mutation
Therapeutics
Genes

Keywords

  • Angiotensin II
  • Mechanotrasduction
  • MicroRNA
  • MMPs
  • TGF-beta

ASJC Scopus subject areas

  • Medicine(all)
  • Molecular Medicine
  • Molecular Biology
  • Pharmacology
  • Cellular and Molecular Neuroscience
  • Cell Biology

Cite this

Vascular smooth muscle cells in Marfan syndrome aneurysm : the broken bricks in the aortic wall. / Perrucci, Gianluca L.; Rurali, Erica; Gowran, Aoife; Pini, Alessandro; Antona, Carlo; Chiesa, Roberto; Pompilio, Giulio; Nigro, Patrizia.

In: Cellular and Molecular Life Sciences, 17.08.2016, p. 1-11.

Research output: Contribution to journalArticle

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AU - Pompilio, Giulio

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