Publication
Title
A decade of discovery in the genetic understanding of thoracic aortic disease
Author
Abstract
Aortic aneurysms are responsible for a significant number of all deaths in Western countries. In this review we provide a perspective on the important progress made over the past decade in the understanding of the genetics of this condition, with an emphasis on the more frequent forms of vascular smooth muscle and transforming growth factor b (TGF-beta) signalling alterations. For several nonsyndromic and syndromic forms of thoracic aortic disease, a genetic basis has now been identified, with 3 main pathomechanisms that have emerged: perturbation of the TGF-beta signalling pathway, disruption of the vascular smooth muscle cell (VSMC) contractile apparatus, and impairment of extra-cellular matrix synthesis. Because smooth muscle cells and proteins of the extracellular matrix directly regulate TGF-beta signalling, this latter pathway emerges as a key component of thoracic aortic disease initiation and progression. These discoveries have revolutionized our understanding of thoracic aortic disease and provided inroads toward gene-specific stratification of treatment. Last, we outline how these genetic findings are translated into novel pharmaceutical approaches for thoracic aortic disease.
Language
English
Source (journal)
Canadian journal of cardiology. - Oakville, Ont.
Publication
New york : Elsevier science inc, 2016
ISSN
0828-282X
Volume/pages
32:1(2016), p. 13-25
ISI
000367378600004
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
[E?say:metaLocaldata.cgzprojectinf]
Clinical and (patho)genetic study of bicuspid aortic valve and associated aortic aneurysm.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.02.2016
Last edited 05.10.2017
To cite this reference