Lessons on the pathogenesis of aneurysm from heritable conditions

Mark E. Lindsay and Harry C. Dietz ()
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Mark E. Lindsay: Johns Hopkins Medical Institutions
Harry C. Dietz: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions

Nature, 2011, vol. 473, issue 7347, 308-316

Abstract: Abstract Aortic aneurysm is common, accounting for 1–2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired defects in components of the extracellular matrix in the aorta. Although several mutations in the genes encoding extracellular matrix proteins have been recognized, more recent discoveries have shown important perturbations in cytokine signalling cascades and intracellular components of the smooth muscle contractile apparatus. The modelling of single-gene heritable aneurysm disorders in mice has shown unexpected involvement of the transforming growth factor-β cytokine pathway in aortic aneurysm, highlighting the potential for new therapeutic strategies.

Date: 2011
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DOI: 10.1038/nature10145

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