Polymorphisms in ion channel genes: Emerging roles in pain

Brain

Volumn 133, Issue 9, 2010, Pages 2515-2518

  Waxman, Stephen G ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; ION CHANNEL; POTASSIUM CHANNEL; POTASSIUM CHANNEL KV.1; SODIUM CHANNEL NAV1.7; TRANSIENT RECEPTOR POTENTIAL CHANNEL A1; UNCLASSIFIED DRUG; CENTRAL STIMULANT AGENT;

GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; NEUROPATHIC PAIN; NOTE; PHARMACOGENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; GENETICS; METABOLISM; PAIN;

ANIMALS; CENTRAL NERVOUS SYSTEM STIMULANTS; HUMANS; ION CHANNELS; PAIN; POLYMORPHISM, GENETIC;

EID: 77956373061     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq240     Document Type: Note

References (25)

1. + current regulates excitability in mouse and rat small diameter sensory neurones. J Physiol 2003; 548: 373-383
2. Choi J-S, Zhang L, Dib-Hajj SD, Han CY, Tyrrell L, Lin Z, et al. Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off. Exper Neuro 2009; 16: 383-389
3. Costigan M, Belfer I, Griffin RS, Dai F, Barrett LB, Coppola G, et al. Multiple chronic pain states are associated with a common amino acid changing allele in KCNS1. Brain 2010; 133: 2519-2527
4. Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006; 444: 894-898
5. Cummins TR, Sheets PL, Waxman SG. The roles of sodium channels in nociception: implications for mechanisms of pain. Pain 2007; 131: 243-257
6. Cummins TR, Waxman SG. Down-regulation of tetrodotoxin-resistant sodium currents and up-regulation of a rapidly repriming tetrodotoxin-sensitive sodium current in small spinal sensory neurons following nerve injury. J Neurosci 1997; 17: 3503-3514
7. Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, et al. Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain 2005; 128: 1847-1854
8. + channel alpha-subunit protein. J Physiol 2003; 546: 565-576
9. Estacion M, Harty TP, Choi JS, Tyrrell L, Dib-Hajj SD, Waxman SG. A sodium channel gene SCN9A polymorphism that increases nocicep-tor excitability. Ann Neurol 2009; 66: 862-866
10. Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and pheno-types. Neuron 2006; 52: 767-774
11. v1.7 mutation producing carbamazepine-responsive erythromelalgia. Ann Neurol 2009; 65: 733-741
12. v1.7 sodium channels in spinal sensory neurons. J Physiol 2003; 551: 741-751
13. Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, et al. Mutation of sodium channel SCN3A in a patient with crypto-genic pediatric partial epilepsy. Neurosci Lett 2008; 433: 65-70.
14. Ishikawa K, Tanaka M, Black JA, Waxman SG. Changes in expression of voltage-gated potassium channels in dorsal root ganglion neurons following axotomy. Muscle Nerve 1999; 22: 502-507
15. Kim DS, Choi JO, Rim HD, Cho HJ. Downregulation of voltage-gated potassium channel alpha gene expression in dorsal root ganglia following chronic constriction injury of the rat sciatic nerve. Brain Res Mol Brain Res 2002; 105: 146-152
16. Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, et al. A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron 2010; 66: 671-680
17. Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, et al. Pain perception is altered by a nucleotide polymorphism in SCN9 A. Proc Natl Acad Sci USA 2010; 107: 5148-5153
18. v1.8 sodium channels to action potential electrogenesis in DRG neurons. J Neurophysiol 2001; 86: 629-640
19. Richardson FC, Kaczmarek LK. Modification of delayed rectifier potassium currents by the Kv9.1 potassium channel subunit. Hear Res 2000; 147: 21-30.
20. Rush AM, Dib-Hajj SD, Liu S, Cummins TR, Black JA, Waxman SG. A single sodium channel mutation produces hyper-or hypoexcitability in different types of neurons. Proc Natl Acad Sci 2006; 103: 8245-8250
21. Salinas M, Duprat F, Heurteaux C, Hugnot JP, Lazdunski M. New mod-ulatory alpha subunits for mammalian Shab K+ channels. J Biol Chem 1997; 272: 24371-24379
22. v1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity. J Physiol 2007; 581: 1019-1031
23. Waxman SG. Channelopathic pain: a growing but still small list of model disorders. Neuron 2010; 66: 622-624
24. Waxman SG, Kocsis JD, Black JA. Type III sodium channel mRNA is expressed in embryonic but not adult spinal sensory neurons, and is re-expressed following axotomy. J Neurophysiol 1994; 72: 466-471
25. Yang EK, Takimoto K, Hayashi Y, de Groat WC, Yoshimura N. Altered expression of potassium channel subunit mRNA and alpha-dendrotoxin sensitivity of potassium currents in rat dorsal root ganglion neurons after axotomy. Neuroscience 2004; 123: 867-874