channelopathy

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/31 14:28:25」(JST)

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Channelopathy
Classification and external resources
MeSH	D053447

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 (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 or voltage-dependent calcium channel (calciumopathy)
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 familiy
Seizure	Voltage-dependent potassium channel

References

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

UpToDate Contents

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• 1. 明らかな器質的心疾患のない患者における突然の心停止 sudden cardiac arrest in the absence of apparent structural heart disease
• 2. 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis
• 3. 遺伝性感覚自律神経ニューロパチー hereditary sensory and autonomic neuropathies
• 4. 筋強直性ジストロフィー：病因、臨床的特徴、および診断 myotonic dystrophy etiology clinical features and diagnosis
• 5. QT短縮症候群 short qt syndrome

English Journal

• Spirodela polyrhiza extract modulates the activation of atopic dermatitis-related ion channels, Orai1 and TRPV3, and inhibits mast cell degranulation.

• Nam JH1,2, Jung HW3, Chin YW4, Yang WM5, Bae HS6, Kim WK2,7.
• Pharmaceutical biology.Pharm Biol.2017 Dec;55(1):1324-1329. doi: 10.1080/13880209.2017.1300819.
• PMID 28290212

• Low expression of complement inhibitory protein CD59 contributes to humoral autoimmunity against astrocytes.

• Wang Z1, Guo W1, Liu Y2, Gong Y2, Ding X2, Shi K1, Thome R3, Zhang GX3, Shi FD4, Yan Y5.
• Brain, behavior, and immunity.Brain Behav Immun.2017 Oct;65:173-182. doi: 10.1016/j.bbi.2017.04.023. Epub 2017 May 2.
• PMID 28476558

• Aquaporin-4 antibody in neuromyelitis optica: re-testing study in a large population from China.

• Long Y1,2, Liang J1,2, Zhong R1,2, Wu L1,2, Qiu W3, Lin S1,2, Gao C1,2, Chen X4, Zheng X5, Yang N6, Gao M7, Wang Z8.
• The International journal of neuroscience.Int J Neurosci.2017 Sep;127(9):790-799. doi: 10.1080/00207454.2016.1259226. Epub 2017 Jan 27.
• PMID 27838939

Japanese Journal

• Clinical Features of Autoimmune Autonomic Ganglionopathy and the Detection of Subunit-Specific Autoantibodies to the Ganglionic Acetylcholine Receptor in Japanese Patients

• PLOS ONE 10(3), e0118312, 2015-03-19
• NAID 120005603865

• Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics

• Circulation: Arrhythmia and Electrophysiology 7(3), 511-517, 2014-06
• NAID 120005477047

• 海外主要文献紹介 肺動脈性肺高血圧症における新たなチャネル異常

• Cardio-renal diabetes 3(1), 40-43, 2014-02
• NAID 40020017933

Related Pictures

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★リンクテーブル★

リンク元	「イオンチャネル病」
拡張検索	「voltage-dependent calcium channelopathy」「voltage-dependent chloride channelopathy」「chloride channelopathy」

「イオンチャネル病」

　　[★]

英

ion channelopathy

関

チャネル病, channelopathy

「voltage-dependent calcium channelopathy」

　　[★] 電位依存性カルシウムチャネル病

「voltage-dependent chloride channelopathy」

　　[★] 電位依存性塩素イオンチャネル病

「chloride channelopathy」

　　[★] 塩素イオンチャネル病