diseases
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
channelopathy
Introduction to ion channel diseases

Channelopathies are diseases associated with malfunction of ion channels or proteins that regulate them. Ion channels belong to a class of proteins that are important for the flux of ions into and out of virtually every living cell.

The diseases can be either congenital or acquired. Inherited channelopathies often result from mutations in the encoding gene sequences. Autoimmune dysfunction or administration of drugs can be the reasons for acquired forms of channelopathies.

According to the data derived from the Human Genome Project several hundreds of different ion channel genes exist. Each of them encodes a specific ion channel subunit which assembles with other subunits to form a functionally active membrane pore selective for ions.

Channelopathies include diseases such as cystic fibrosis, congenital long QT syndrome, migraine, epilepsy and many others. Often, these disorders are rare and therefore physicians, patients and scientists are usually not familiar with all aspects of the clinical symptoms.
Channelopathies are a major class of rare diseases and arise from malfunction of so-called ion channels, a special class of enzymes that can be the target of poisons from toxic animals. The frequency of channelopathies is very low. Typically 1 of 2000 people are struck by single gene diseases.