Article ; Online: Channelopathies: ion channel defects linked to heritable clinical disorders.
2000 Volume 37, Issue 10, Page(s) 729–740
Abstract: ... a voltage gated Na(+) channel. Their characterisation as channelopathies has served as a paradigm ... to show that several disorders result from mutations in voltage gated ion channels. Understanding gained ... ion channelopathies in humans and mice. ...
| Abstract | Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being used to show that several disorders result from mutations in voltage gated ion channels. Understanding gained from early studies on the pathogenesis of a group of muscle diseases that are similar in their episodic nature (periodic paralysis) showed that these disorders result from mutations in a gene encoding a voltage gated Na(+) channel. Their characterisation as channelopathies has served as a paradigm for other episodic disorders. For example, migraine headache and some forms of epilepsy have been shown to result from mutations in voltage gated Ca(2+) channel genes, while long QT syndrome is known to result from mutations in either K(+) or Na(+) channel genes. This article reviews progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice. |
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| MeSH term(s) | Animals ; Calcium Channels/chemistry ; Calcium Channels/genetics ; Calcium Channels/physiology ; Disease Models, Animal ; Electrophysiology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/physiopathology ; Heart Diseases/genetics ; Heart Diseases/physiopathology ; Humans ; Ion Channels/chemistry ; Ion Channels/genetics ; Ion Channels/physiology ; Mice ; Mutation/genetics ; Nervous System Diseases/genetics ; Nervous System Diseases/physiopathology ; Potassium Channels/chemistry ; Potassium Channels/genetics ; Potassium Channels/physiology ; Sodium Channels/chemistry ; Sodium Channels/genetics ; Sodium Channels/physiology | |||||
| Chemical Substances | Calcium Channels ; Ion Channels ; Potassium Channels ; Sodium Channels | |||||
| Language | English | |||||
| Publishing date | 2000-10 | |||||
| Publishing country | England | |||||
| Document type | Journal Article ; Research Support, Non-U.S. Gov't ; Review | |||||
| ZDB-ID | 220881-7 | |||||
| ISSN | 1468-6244 ; 0022-2593 | |||||
| ISSN (online) | 1468-6244 | |||||
| ISSN | 0022-2593 | |||||
| DOI | 10.1136/jmg.37.10.729 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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