Living Reference Work Entry

PanVascular Medicine

pp 1-41

Date: Latest Version

Vascular Genetics

  • Manfred BoehmAffiliated withCenter for Molecular Medicine, Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung and Blood Institute, National Institutes of Health Email author 
  • , Cynthia St. HilaireAffiliated withCenter for Molecular Medicine, Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung and Blood Institute, National Institutes of Health Email author 

Abstract

Rare monogenetic diseases provide a unique window into the basic understanding of the resulting pathology. In a complex organ system such at the vasculature, identification of rare diseases that affect the architecture and/or cellular makeup of the vessel provides further insight into the underlying mechanisms that regulate homeostasis in healthy tissue.

More than just conduits for the movement of blood throughout the body, arteries contribute to the greater cardiovascular and general health of an individual via their ability to regulate blood pressure and heart rate. The wall of an artery consists of three layers: the tunica adventitia is the outer sheath which consists of fibroblasts, pericytes, and various resident immune cells, connective tissue, and collagen and elastic fibers; the tunica media, a thicker middle layer consisting of vascular smooth muscle cells, an abundant layer extracellular matrix, and elastic fibers; and the inner tunica intima, an elastic membrane upon which endothelial cells reside and have direct contact with blood. Below is a summary of monogenetic diseases that manifest the most common deleterious alterations in the vascular wall: atherosclerosis, aneurysms, and stiffening of the arteries. We have grouped these diseases by the general molecular mechanisms that are altered as a result of the identified genetic mutations. We believe that looking at disease pathologies through a molecular lens helps to understand the common mechanisms underlying vessel homeostasis and is beneficial for identifying potential therapeutic targets and treatment strategies.