Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function

• Published in: Biomolecules (Basel, Switzerland) Vol. 10; no. 2; p. 211
• Main Authors: Sucharski, Holly C, Dudley, Emma K, Keith, Caullin B R, El Refaey, Mona, Koenig, Sara N, Mohler, Peter J
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI 31.01.2020; MDPI AG
• Subjects: Animals; ank2; ankyrin-b; Ankyrins - genetics; Ankyrins - physiology; Arrhythmias, Cardiac - metabolism; cardiovascular disease; Cardiovascular Diseases - metabolism; Cytoskeleton - metabolism; Genetic Variation; Heart Block; Heart Rate; Humans; Ion Channels; Phenotype; Protein Domains; Protein Isoforms; Review; Signal Transduction; cardiovascular disease; ANK2; ankyrin-B; ion channels
• ISSN: 2218-273X; 2218-273X
• DOI: 10.3390/biom10020211

Ankyrin-B (encoded by ), originally identified as a key cytoskeletal-associated protein in the brain, is highly expressed in the heart and plays critical roles in cardiac physiology and cell biology. In the heart, ankyrin-B plays key roles in the targeting and localization of key ion channels and transporters, structural proteins, and signaling molecules. The role of ankyrin-B in normal cardiac function is illustrated in animal models lacking ankyrin-B expression, which display significant electrical and structural phenotypes and life-threatening arrhythmias. Further, ankyrin-B dysfunction has been associated with cardiac phenotypes in humans (now referred to as "ankyrin-B syndrome") including sinus node dysfunction, heart rate variability, atrial fibrillation, conduction block, arrhythmogenic cardiomyopathy, structural remodeling, and sudden cardiac death. Here, we review the diverse roles of ankyrin-B in the vertebrate heart with a significant focus on ankyrin-B-linked cell- and molecular-pathways and disease.