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Channelopathy |
Classification and external resources |
MeSH |
D053447 |
[edit on Wikidata]
|
Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1][2] These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired[3] (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.
Channelopathies affecting synaptic function are a type of synaptopathy.
Contents
- 1 Types
- 2 References
- 3 Bibliography
- 4 External links
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 |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) |
Calcium channel |
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
or
voltage-dependent calcium channel (calciumopathy)
|
Lambert-Eaton myasthenic syndrome |
Voltage-gated calcium 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
- (a periodic paralysis)
|
Voltage-gated sodium channel |
Retinitis pigmentosa
- (some forms)
|
Ligand-gated non-specific ion channels |
Short QT syndrome |
various potassium channels suspected |
Timothy syndrome |
Voltage-dependent calcium channel |
Tinnitus |
Voltage-gated potassium channel of the KCNQ family |
Seizure |
Voltage-dependent potassium channel[4][5] |
References
- ^ Kim, JB (2014). "channelopathies". Korean Journal of Pediatrics. 57 (1): 1–18. doi:10.3345/kjp.2014.57.1.1. PMC 3935107. PMID 24578711.
- ^ 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 Weiss Lab". The Weiss Lab is investigating the molecular and cellular mechanisms underlying human diseases caused by dysfunction of ion channels.
- The Channelopathy Foundation - Foundation for Ion Channel diseases
- Cystic Fibrosis Foundation
- Rare Diseases Clinical Research Network
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
|
|
Neuromuscular-
junction disease |
- autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome
|
|
Myopathy/
congenital myopathy |
Muscular dystrophy
(DAPC) |
AD |
- Limb-girdle muscular dystrophy 1
- Oculopharyngeal
- Facioscapulohumeral
- Myotonic
- Distal (most)
|
|
AR |
- Limb-girdle muscular dystrophy 2
- Congenital
- Fukuyama
- Ullrich
- Walker–Warburg
|
|
XR |
- dystrophin
- Emery–Dreifuss
|
|
|
Other structural |
- collagen disease
- PTP disease
- adaptor protein disease
- BIN1-linked centronuclear myopathy
- cytoskeleton disease
- Nemaline myopathy
- Zaspopathy
|
|
Channelopathy |
Myotonia |
- Myotonia congenita
- Thomsen disease
- Neuromyotonia/Isaacs syndrome
- Paramyotonia congenita
|
|
Periodic paralysis |
|
|
Other |
|
|
|
Mitochondrial myopathy |
|
|
Other |
|
|
Diseases of ion channels
|
|
Calcium channel |
Voltage-gated |
- CACNA1A
- Familial hemiplegic migraine 1
- Episodic ataxia 2
- Spinocerebellar ataxia type-6
- CACNA1C
- Timothy syndrome
- Brugada syndrome 3
- Long QT syndrome 8
- CACNA1F
- CACNA1S
- Hypokalemic periodic paralysis 1
- Thyrotoxic periodic paralysis 1
- CACNB2
|
|
Ligand gated |
- RYR1
- Malignant hyperthermia
- Central core disease
- RYR2
|
|
|
Sodium channel |
Voltage-gated |
- SCN1A
- Familial hemiplegic migraine 3
- GEFS+ 2
- Febrile seizure 3A
- SCN1B
- Brugada syndrome 6
- GEFS+ 1
- SCN4A
- Hypokalemic periodic paralysis 2
- Hyperkalemic periodic paralysis
- Paramyotonia congenita
- Potassium-aggravated myotonia
- SCN4B
- SCN5A
- Brugada syndrome 1
- Long QT syndrome 3
- SCN9A
- Erythromelalgia
- Febrile seizure 3B
- Paroxysmal extreme pain disorder
- Congenital insensitivity to pain
|
|
Constitutively active |
- SCNN1B/SCNN1G
- SCNN1A/SCNN1B/SCNN1G
- Pseudohypoaldosteronism 1AR
|
|
|
Potassium channel |
Voltage-gated |
- KCNA1
- KCNA5
- Familial atrial fibrillation 7
- KCNC3
- Spinocerebellar ataxia type-13
- KCNE1
- Jervell and Lange-Nielsen syndrome
- Long QT syndrome 5
- KCNE2
- KCNE3
- KCNH2
- KCNQ1
- Jervell and Lange-Nielsen syndrome
- Romano–Ward syndrome
- Short QT syndrome
- Long QT syndrome 1
- Familial atrial fibrillation 3
- KCNQ2
|
|
Inward-rectifier |
- KCNJ1
- KCNJ2
- Andersen–Tawil syndrome
- Long QT syndrome 7
- Short QT syndrome)
- KCNJ11
- KCNJ18
- Thyrotoxic periodic paralysis 2
|
|
|
Chloride channel |
- CFTR
- Cystic fibrosis
- Congenital absence of the vas deferens
- CLCN1
- Thomsen disease
- Myotonia congenita
- CLCN5
- CLCN7
- BEST1
- Vitelliform macular dystrophy
- CLCNKB
|
|
TRP channel |
|
|
Connexin |
- GJA1
- Oculodentodigital dysplasia
- Hallermann–Streiff syndrome
- Hypoplastic left heart syndrome
- GJB1
- Charcot–Marie–Tooth disease X1
- GJB2
- Keratitis–ichthyosis–deafness syndrome
- Ichthyosis hystrix
- Bart–Pumphrey syndrome
- Vohwinkel syndrome)
- GJB3/GJB4
- Erythrokeratodermia variabilis
- Progressive symmetric erythrokeratodermia
- GJB6
- Clouston's hidrotic ectodermal dysplasia
|
|
Porin |
- AQP2
- Nephrogenic diabetes insipidus 2
|
|
See also: ion channels
|
UpToDate Contents
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English Journal
- Dynamic change in magnetic resonance imaging of patients with neuromyelitis optica.
- Fan Y1,2, Shan F1,2, Lin SP1,3, Long Y1,2, Liang B1,2, Gao C1,2, Gao Q1,2.
- The International journal of neuroscience.Int J Neurosci.2016 May;126(5):448-54. doi: 10.3109/00207454.2015.1055356. Epub 2015 Sep 3.
- OBJECTIVE: To analyze changes in magnetic resonance imaging (MRI) of spinal cord lesions in neuromyelitis optica (NMO) and the correlation between segmental length of spinal cord lesions and expanded disability status scale (EDSS) scores.METHODS: Twenty-five patients with confirmed NMO were examined
- PMID 26010209
- NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.
- Conroy J1,2, Allen NM3, Gorman KM3, Shahwan A3, Ennis S2, Lynch SA2,4, King MD2,3.
- Clinical genetics.Clin Genet.2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28.
- Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early-onset epileptic encephalopathies (EOEEs). While many of these disorders are caused by neuronal channelopathies, the role of synaptic and related neuronal proteins are increas
- PMID 26235277
- Neural network modelling of the influence of channelopathies on reflex visual attention.
- Gravier A1, Quek C2, Duch W3, Wahab A4, Gravier-Rymaszewska J5.
- Cognitive neurodynamics.Cogn Neurodyn.2016 Feb;10(1):49-72. doi: 10.1007/s11571-015-9365-x. Epub 2015 Nov 9.
- This paper introduces a model of Emergent Visual Attention in presence of calcium channelopathy (EVAC). By modelling channelopathy, EVAC constitutes an effort towards identifying the possible causes of autism. The network structure embodies the dual pathways model of cortical processing of visual in
- PMID 26834861
Japanese Journal
- ATP感受性K<sup>+</sup>チャネル病の新規症候群—Cantú症候群
- Catecholaminergic Polymorphic Ventricular Tachycardia
Related Links
- Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired ...
- 11 Apr 1998 ... Disorders of ion channels (channelopathies) are increasingly being identified, making this a rapidly expanding area of neurology. Ion channel function may be controlled by changes in voltage (voltage gated), chemical ...
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