Pathophysiology of aortic aneurysm: Insights from human genetics and mouse models

Nicole K. Wilson, Russell A. Gould, Elena MacFarlane

Research output: Contribution to journalReview article

Abstract

Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands. We also discuss how pharmacological manipulation of these signaling pathways has provided further insight into the mechanism of disease and identified compounds with therapeutic potential in these and related disorders.

Original languageEnglish (US)
Pages (from-to)2071-2080
Number of pages10
JournalPharmacogenomics
Volume17
Issue number18
DOIs
StatePublished - Dec 1 2016

Fingerprint

Thoracic Aortic Aneurysm
Aortic Aneurysm
Genetic Models
Medical Genetics
Angiotensin II
Connective Tissue
Aneurysm
Disease Progression
Rupture
Dilatation
Homeostasis
Arteries
Pharmacology
Ligands
Mortality
Therapeutics

Keywords

  • aneurysm
  • angiotensin II
  • aorta
  • bicuspid aortic valve
  • ERK1/2
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Notch
  • Smad
  • TGF-β

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmacology

Cite this

Pathophysiology of aortic aneurysm : Insights from human genetics and mouse models. / Wilson, Nicole K.; Gould, Russell A.; MacFarlane, Elena.

In: Pharmacogenomics, Vol. 17, No. 18, 01.12.2016, p. 2071-2080.

Research output: Contribution to journalReview article

Wilson, Nicole K. ; Gould, Russell A. ; MacFarlane, Elena. / Pathophysiology of aortic aneurysm : Insights from human genetics and mouse models. In: Pharmacogenomics. 2016 ; Vol. 17, No. 18. pp. 2071-2080.
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