Channelopathy
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history
Channelopathy diseases are caused by disturbed function of ion channel subunits or the proteins that regulate them. They can be genetic (inherited) or acquired, for example through an autoimmune attack on the channel. Genetic testing can be used to identify many of the inherited channelopathy diseases, but since acquired channelopathies only involve gene changes to some types of cell rather than all cells gene testing is not normally used for diagnosis.[1]
Neurological channelopathies[edit | edit source]
Central nervous system channelopathies[edit | edit source]
See also: central nervous system
| Channel | Gene | Disease | Notes |
|---|---|---|---|
| Sodium channel | SCN1A | Epilepsy, migraine | |
| Sodium channel | SCN1B | Epilepsy | |
| Sodium channel | SCN2A | Epilepsy | |
| Potassium channel | KCNQ2 | Epilepsy | |
| Potassium channel | KCNQ3 | Epilepsy | |
| Potassium channel | KCNMA1 | Epilepsy with dyskinesia | |
| Potassium channel | KCNA1 | Episodic ataxia | |
| Potassium channel | KCNC3 | Ataxia | |
| Calcium channel | CACNA1H | Epilepsy | |
| Calcium channel | CACNA1A | Episodic or progressive ataxia, migraine, epilepsy | |
| GABAA receptor | GABRA1 | Epilepsy | |
| GABAA receptor | GABRB3 | Epilepsy | |
| GABAA receptor | GABRG2 | Epilepsy | |
| Nicotinic ACh receptor | CHRNA2 | Epilepsy | |
| Nicotinic ACh receptor | CHNRA4 | Epilepsy | |
| Nicotinic ACh receptor | CHRNB2 | Epilepsy | |
| Glycine receptor | GLRA1 | Hyperekplexia | |
| Glycine receptor | GLRB | Hyperekplexia[2] |
Peripheral nerve channelopathies[edit | edit source]
| Channel | Gene | Disease | Notes |
|---|---|---|---|
| Sodium channel | SCN9A | Excessive pain, insensitivity to pain | Associated with one particular severe form of Fibromyalgia[3][2] |
Muscle Channelopathies[edit | edit source]
| Channel | Gene | Disease | Notes |
|---|---|---|---|
| Sodium channel | SCN4A | Periodic paralysis, myotonia | |
| Potassium channel | KCNJ2 | Periodic paralysis | |
| Potassium channel | KCNJ18 | Periodic paralysis | |
| Calcium channel | CACNA1S | Periodic paralysis | |
| Chloride channel | CLCN1 | Myotonia | |
| Nicotinic ACh receptor | CHRNA1 | Congenital myasthenic syndromes | |
| Nicotinic ACh receptor | CHRNB1 | Congenital myasthenic syndromes | |
| Nicotinic ACh receptor | CHRNG | Congenital myasthenic syndromes | |
| Nicotinic ACh receptor | CHRND | Congenital myasthenic syndromes | |
| Nicotinic ACh receptor | CHRNE | Congenital myasthenic syndromes [2] |
Pain channelopathies[edit | edit source]
Gene SCN9A has been found to be associated with one particular severe form of fibromyalgia,[3] and with other pain-related conditions including a congenital inability to feel pain and extreme pain syndromes.[4]
ME / CFS[edit | edit source]
Symptom recognition[edit | edit source]
Channelopathy research is referenced in the International Consensus Criteria Primer.
Notable studies[edit | edit source]
- 2000, Comparative analysis of lymphocytes in lymph nodes and peripheral blood of patients with chronic fatigue syndrome[5]
- 2004, Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions[6]
- 2007, Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response[7]
- 2010, Neurological channelopathies: new insights into disease mechanisms and ion channel function[2]
See also[edit | edit source]
Learn more[edit | edit source]
- Channelopathies (review article)[8]
- Channelopathies as a genetic cause of epilepsy[9]
- Ion Channels and Neurology[10]
- Advanced Genetic Testing comes to the Pain Clinic to Make a Diagnosis of Paraxysmal Extreme Pain Disorder
- Seizures and arrhythmias: Differing phenotypes of a common channelopathy?[11]
References[edit | edit source]
- ↑ Genetics Home Reference | NIH. "What is a gene mutation and how do mutations occur?". Genetics Home Reference. Retrieved November 30, 2018.
- ↑ 2.0 2.1 2.2 2.3 Kullmann, Dimitri M.; Waxman, Stephen G. (May 28, 2010). "Neurological channelopathies: new insights into disease mechanisms and ion channel function". The Journal of Physiology. 588 (11): 1823–1827. doi:10.1113/jphysiol.2010.190652. ISSN 0022-3751. PMC 2901970. PMID 20375141.
- ↑ 3.0 3.1 Vargas-Alarcon, G; Alvarez-Leon, E; Fragoso, JM; Vargas, A; Martinez, A; Vallejo, M; Martinez-Lavin, M (2012). "A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia". J Rheumatol Suppl. 19: 13–23. doi:10.1186/1471-2474-13-23. PMC 3310736. PMID 22348792.
- ↑ Cannon, Ashley; Kurklinsky, Svetlana; Guthrie, Kimberly J.; Riegert-Johnson, Douglas L. (2016). "Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder". Case Reports in Neurological Medicine: 1–7. doi:10.1155/2016/9212369. ISSN 2090-6668. PMC 4972908. PMID 27525141.
- ↑ Fletcher, Mary Ann; Maher, Kevin; Patarca-Montero, Roberto; Klimas, Nancy (January 2000). "Comparative Analysis of Lymphocytes in Lymph Nodes and Peripheral Blood of Patients with Chronic Fatigue Syndrome". Journal of Chronic Fatigue Syndrome. 7 (3): 65–75. doi:10.1300/j092v07n03_06. ISSN 1057-3321.
- ↑ Klimas, Nancy G.; Koneru, Anne O'Brien (December 2007). "Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions". Current Rheumatology Reports. 9 (6): 482–487. ISSN 1523-3774. PMID 18177602.
- ↑ Nijs, Jo; De Meirleir, Kenny; Meeus, Mira; McGregor, Neil R.; Englebienne, Patrick (2004). "Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response". Medical Hypotheses. 62 (5): 759–765. doi:10.1016/j.mehy.2003.11.030. ISSN 0306-9877. PMID 15082102.
- ↑ Kim, June-Bum (January 2014). "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1–18. doi:10.3345/kjp.2014.57.1.1. ISSN 1738-1061. PMC 3935107. PMID 24578711.
- ↑ Mulley, SF; Scheffer, IE; Petrou; Berkovic (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 April 30, 2009.
- ↑ Zuberi, S.M.; Hanna, M.G. (March 1, 2001). "Ion channels and neurology". Archives of Disease in Childhood. 84 (3): 277–280. doi:10.1136/adc.84.3.277. ISSN 0003-9888. PMID 11207185.
- ↑ Hunter, JV; Moss, AJ (January 2009). "Seizures and arrhythmias: Differing phenotypes of a common channelopathy?". Neurology (journal). 72 (3): 208–9. doi:10.1212/01.wnl.0000339490.98283.c5. PMID 19153369. Retrieved April 30, 2009.
