Arrhythmia-associated cardiac Ca²(+) cycling proteins and gene mutations.
Calcium is an important mediator in cardiac excitation and disorders in cardiac Ca(2+) homeostasis have great influence on the cardiac action potential. Therefore dysfunction in regulatory proteins that are involved in Ca(2+) handling can lead to the occurrence of severe arrhythmia. Although mutations in Ca(2+) regulating proteins are quite rare, they can offer general insights into arrhythmogenesis. Here, we briefly review some important aspects of arrhythmia-associated mutations in Ca(2+) regulating proteins with special emphasis to its associated pathophysiology.
Division of Experimental and Clinical Electrophysiology,Department of Cardiology and Angiology,University Hospital Münster,Albert-Schweitzer-Campus 1 (Gebäude A1),48149 Muenster, Germany. simon.kochhaeuser@ukmuenster.de
Simon
S
Kochhäuser
Eric
E
Schulze-Bahr
Uwe
U
Kirchhefer
D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000503:physiopathology*; D001321:Autistic Disorder; D053840:Brugada Syndrome / Q000235:genetics / Q000503:physiopathology; D002118:Calcium / Q000378:metabolism*; D020746:Calcium Channels, L-Type / Q000235:genetics / Q000502:physiology; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000502:physiology*; D002155:Calsequestrin / Q000235:genetics / Q000502:physiology; D003600:Cytosol / Q000502:physiology; D003971:Diastole / Q000502:physiology; D004562:Electrocardiography; D005260:Female; D006706:Homeostasis / Q000235:genetics / Q000502:physiology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009210:Myofibrils / Q000502:physiology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics / Q000502:physiology; D012519:Sarcoplasmic Reticulum / Q000502:physiology; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics / Q000502:physiology; D019831:Sodium-Calcium Exchanger / Q000235:genetics / Q000502:physiology; D013576:Syndactyly / Q000235:genetics / Q000503:physiopathology; D017180:Tachycardia, Ventricular / Q000235:genetics / Q000503:physiopathology; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
C443109:CASQ2 protein, human; D020746:Calcium Channels, L-Type; D002135:Calcium-Binding Proteins; D002155:Calsequestrin; D019837:Ryanodine Receptor Calcium Release Channel; D019831:Sodium-Calcium Exchanger; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; D002118:Calcium