Channelopathies from mutations in the cardiac sodium channel protein complex

• Published in: Journal of molecular and cellular cardiology 2013-08, Vol.61, p.34-43
• Main Authors: Adsit, Graham S, Vaidyanathan, Ravi, Galler, Carla M, Kyle, John W, Makielski, Jonathan C
• Format: Article
• Language: English
• Subjects: Animals; Arrhythmia; Arrhythmias, Cardiac - genetics; Arrhythmias, Cardiac - metabolism; Brugada Syndrome; Calcium-Binding Proteins - genetics; Calcium-Binding Proteins - metabolism; Cardiovascular; Channelopathies - genetics; Channelopathies - metabolism; Channelopathies - physiopathology; Homeostasis; Humans; Long QT syndrome; Membrane Proteins - genetics; Membrane Proteins - metabolism; Multiprotein Complexes - genetics; Multiprotein Complexes - metabolism; Muscle Proteins - genetics; Muscle Proteins - metabolism; Mutation, Missense; Myocardial Contraction; NAV1.5 Voltage-Gated Sodium Channel - genetics; NAV1.5 Voltage-Gated Sodium Channel - metabolism; Protein Subunits - genetics; Protein Subunits - metabolism; SCN5A; SIDS; Sodium current
• ISSN: 0022-2828; 1095-8584
• DOI: 10.1016/j.yjmcc.2013.03.017

Abstract The cardiac sodium current underlies excitability in heart, and inherited abnormalities of the proteins regulating and conducting this current cause inherited arrhythmia syndromes. This review focuses on inherited mutations in non-pore forming proteins of sodium channel complexes that cause cardiac arrhythmia, and the deduced mechanisms by which they affect function and dysfunction of the cardiac sodium current. Defining the structure and function of these complexes and how they are regulated will contribute to understanding the possible roles for this complex in normal and abnormal physiology and homeostasis. This article is part of a Special Issue entitled “Na+ Regulation in Cardiac Myocytes”.