Channelopathy
| Channelopathy | |
|---|---|
| Classification and external resources | |
| MeSH | D053447 |
Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1] These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired[2] (often resulting from autoimmune attack on an ion channel).
There are a large number of distinct dysfunctions known to be caused by ion channel mutations. The genes for the construction of ion channels are highly conserved amongst mammals and one condition, hyperkalemic periodic paralysis, was first identified in the descendants of Impressive, a registered Quarter Horse (see AQHA website).
The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.
Types
The types in the following table are commonly accepted. Channelopathies currently under research, like Kir4.1 potassium channel in multiple sclerosis, are not included.
| Condition | Channel type |
|---|---|
| Alternating hemiplegia of childhood | Na⁺/K⁺-ATPase |
| Bartter syndrome | various by type |
| Brugada syndrome | various, by type |
| Congenital hyperinsulinism | Inward-rectifier potassium ion channel |
| Cystic fibrosis | Chloride channel |
| Dravet Syndrome | Voltage-gated sodium channel |
| Episodic Ataxia | Voltage-gated potassium channel |
| Erythromelalgia | Voltage-gated sodium channel |
| Generalized epilepsy with febrile seizures plus | Voltage-gated sodium channel |
| Familial hemiplegic migraine | various |
| Fibromyalgia | Voltage-gated sodium channel |
| Hyperkalemic periodic paralysis | Voltage-gated sodium channel |
| Hypokalemic periodic paralysis | Voltage-gated sodium channel |
| Long QT syndrome main type Romano-Ward syndrome |
various, by type |
| Malignant hyperthermia | Ligand-gated calcium channel |
| Mucolipidosis type IV | Non-selective cation channel |
| Myasthenia Gravis | Ligand-gated sodium channel |
| Myotonia congenita | Voltage-dependent chloride channel |
| Neuromyelitis optica | Aquaporin-4 water channel |
| Neuromyotonia | Voltage-gated potassium channel |
| Nonsyndromic deafness | various |
| Paramyotonia congenita |
Voltage-gated sodium channel |
Retinitis pigmentosa
|
Ligand-gated non-specific ion channels |
| Short QT syndrome | various potassium channels suspected |
| Timothy syndrome | Voltage-dependent calcium channel |
| Seizure | Voltage-dependent potassium channel[3][4] |
References
- ↑ Robert S. Kass (2005). "The channelopathies: novel insights into molecular and genetic mechanisms of human disease". Journal of Clinical Investigation 115 (8): 1986–9. doi:10.1172/JCI26011. PMC 1180558. PMID 16075038.
- ↑ Sid Gilman (2007). Neurobiology of disease. Academic Press. pp. 319–. ISBN 978-0-12-088592-3. Retrieved 22 November 2010.
- ↑ Hunter JV, Moss AJ (January 2009). "Seizures and arrhythmias: Differing phenotypes of a common channelopathy?". Neurology 72 (3): 208–9. doi:10.1212/01.wnl.0000339490.98283.c5. PMID 19153369. Retrieved 2009-04-30.
- ↑ Mulley JC, Scheffer IE, Petrou S, Berkovic SF (April 2003). "Channelopathies as a genetic cause of epilepsy". Current Opinion in Neurology 16 (2): 171–6. doi:10.1097/00019052-200304000-00009. PMID 12644745. Retrieved 2009-04-30.
Bibliography
- Song, YW; Kim, SJ; Heo, TH; Kim, MH; Kim, JB (2012). "Normokalemic periodic paralysis is not a distinct disease". Muscle & Nerve 46 (6): 908–913. doi:10.1002/mus.23441. PMID 22926674.
External links
VIDEO Channel Surfing in Pediatrics by Carl E. Stafstrom, M.D., at the UW-Madison Health Sciences Learning Center.
- The Channelopathy Foundation - Foundation for Ion Channel diseases
- Cystic Fibrosis Foundation
- Rare Diseases Clinical Research Network
| |||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||