Diseases caused by disturbed function of ion channel subunits or the proteins that regulate them
Medical condition
Channelopathy
Sodium channel, implicated in channelopathies including Brugada syndrome, Long QT syndrome, Dravet syndrome, Paramyotonia congenita
Specialty
Medical genetics, Neuromuscular medicine, Cardiology
Symptoms
Dependent on type. Include: Syncope, muscle weakness, seizures, breathlessness
Complications
Dependent on type. Include: Sudden death
Causes
Genetic variants
Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies.[1] There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes.[2] Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel.
Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system, the electrical impulse needed for each heartbeat is made possible by the electrochemical gradient of each heart cell. Because the heartbeat is dependent on the proper movement of ions across the surface membrane, cardiac channelopathies make up a key group of heart diseases.[3] Long QT syndrome, the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias (e.g., torsade de pointes), syncope, and sudden cardiac death.[1]
The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.
Channelopathies affecting synaptic function are a type of synaptopathy.
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^Imbrici P, Liantonio A, Camerino GM, De Bellis M, Camerino C, Mele A, et al. (2016-05-10). "Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery". Frontiers in Pharmacology. 7: 121. doi:10.3389/fphar.2016.00121. PMC 4861771. PMID 27242528.
Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited...
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Matthews GD, Huang CL (April 2012). "Sudden cardiac death and inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel...
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membrane, and this group of conditions is therefore often referred to as channelopathies. Examples of these inherited arrhythmia syndromes include Long QT syndrome...
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