Ion channels in disease.
Diseases as different as cardiac arrhythmias, epilepsy, myotonia, malignant hyperthermia, familial hyperinsulinism, and Bartter syndrome have all been linked to mutations in genes encoding ion channels. This has been made possible by an exciting and fruitful collaboration between clinicians, geneticists, and physiologists. It has led to a more detailed understanding not only of pathology but also of physiology, as the deficiency of a certain gene helps unravel its physiologic role. Some exciting and surprising findings have recently been made in the field of "channelopathies." Understanding these diseases on the molecular level will provide the basis for a rational therapeutic approach to affected patients.
Bockenhauer
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Yale University School of Medicine, Department of Pediatric Nephrology, New Haven, Connecticut 06510, USA. detlef.bockenhauer@yale.edu
D002318:Cardiovascular Diseases / Q000235:genetics* / Q000503:physiopathology; D004066:Digestive System Diseases / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000502:physiology*; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology; D009140:Musculoskeletal Diseases / Q000235:genetics* / Q000503:physiopathology; D009422:Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics / Q000502:physiology
D007473:Ion Channels