Smooth Muscle-Alpha Actin R149C Pathogenic Variant Downregulates Integrin Recruitment at Cell-Matrix Adhesions and Decreases Cellular Contractility.

Thoracic aortic aneurysm is found in patients with pathogenic variants. missense variants are associated with impaired aortic smooth muscle cell (SMC) contraction. This study tested the hypothesis that the variant alters actin isoform expression and decreases integrin recruitment, thus, reducing aortic contractility.