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Lessons on the pathogenesis of aneurysm from heritable conditions

Author

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  • Mark E. Lindsay

    (Johns Hopkins Medical Institutions
    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions)

  • Harry C. Dietz

    (McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions
    Howard Hughes Medical Institute)

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.

Suggested Citation

  • Mark E. Lindsay & Harry C. Dietz, 2011. "Lessons on the pathogenesis of aneurysm from heritable conditions," Nature, Nature, vol. 473(7347), pages 308-316, May.
    • Handle: RePEc:nat:nature:v:473:y:2011:i:7347:d:10.1038_nature10145
    DOI: 10.1038/nature10145
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    Cited by:

    1. Erik Schoenmakers & Federica Marelli & Helle F. Jørgensen & W. Edward Visser & Carla Moran & Stefan Groeneweg & Carolina Avalos & Sean J. Jurgens & Nichola Figg & Alison Finigan & Neha Wali & Maura Ag, 2023. "Selenoprotein deficiency disorder predisposes to aortic aneurysm formation," Nature Communications, Nature, vol. 14(1), pages 1-14, December.

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