Channelopathies

Channelopathies (/ˌkænəˈlɒpəθiːz/; from Greek: χάνελ, channel + πάθος, suffering) are a group of diseases that are caused by abnormal function of ion channel subunits or the proteins that regulate them. These diseases are the result of disturbed function in cell surface membrane proteins that are involved in ion transport, causing a range of symptoms and conditions.

Etymology

The term "Channelopathy" is derived from the Greek words "channel", referring to the ion channels, and "pathos", meaning suffering. It was first used in the late 20th century to describe diseases resulting from dysfunction of ion channels.

Classification

Channelopathies can be classified based on the specific type of ion channel that is affected. This includes:

Sodium channelopathies: These are caused by mutations in the genes encoding sodium channels. Examples include Brugada syndrome, Long QT syndrome, and some forms of Epilepsy.

Potassium channelopathies: These are caused by mutations in the genes encoding potassium channels. Examples include Andersen-Tawil syndrome, Short QT syndrome, and some forms of Epilepsy.

Calcium channelopathies: These are caused by mutations in the genes encoding calcium channels. Examples include Timothy syndrome, Migraine with aura, and Spinocerebellar ataxia.

Chloride channelopathies: These are caused by mutations in the genes encoding chloride channels. An example is Myotonia congenita.

Treatment

Treatment of channelopathies is largely symptomatic, focusing on managing the symptoms and preventing complications. This may involve medication, lifestyle changes, or in some cases, surgery.

External links

Medical encyclopedia article on Channelopathies
Wikipedia's article - Channelopathies

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Channelopathies