AN INTRODUCTION TO ACTA2 GENE MUTATIONS ^1,2,3

Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility. Smooth muscle cells form part of the wall of most vessels in the body, the lungs, the gastrointestinal system, the bladder and the eye among other organs. Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.

Multiple variations of ACTA2 mutations exist, and the ACTA2 gene has been implicated in multiple diseases to include Familial Thoracic Aortic Aneurysm and Dissection (TAAD), Abdominal Aortic Aneurysm and Dissection (AAAD), Ischemic Strokes, Premature Coronary Artery Disease, and most recently Multisystemic Smooth Muscle Dysfunction (ACTA2.R179H predominantly). Over 30 ACTA2 gene mutations have been identified as contributors to thoracic aortic aneurysm and dissection (see Table 1). For more information regarding aortic health and dissection, please click HERE.