Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies.

ABSTRACT: Thoracic aortic aneurysms (TAA) are permanent and localized dilations of the aorta that predispose patients to a life-threatening risk of aortic dissection or rupture. The identification of pathogenic variants that cause hereditary forms of TAA has delineated fundamental molecular processes required to maintain aortic homeostasis. Vascular smooth muscle cells (VSMCs) elaborate and remodel the extracellular matrix (ECM) in response to mechanical and biochemical cues from their environment. Causal variants for hereditary forms of aneurysm compromise the function of gene products involved in the transmission or interpretation of these signals, initiating processes that eventually lead to degeneration and mechanical failure of the vessel. These include mutations that interfere with transductio

SUBMITTER: Creamer TJ 

PROVIDER: S-EPMC7912671 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature