Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin

Significance Point mutations in vascular smooth muscle α-actin are the most prevalent cause of familial thoracic aortic aneurysms leading to acute dissections, yet the molecular mechanism by which these mutations affect actin function is unknown. An underlying cause of the disease is thought to be contractile dysfunction, which initiates adaptive pathways to repair the defects in the smooth muscle cells. Here, we investigate the effects of the...