A Novel SCN9A Mutation Responsible for Primary Erythromelalgia and Is Resistant to the Treatment of Sodium Channel Blockers

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Wu, Min Tzu ^a   Huang, Po Yuan ^a   Yen, Chen Tung ^a   Chen, Chih Cheng ^b   Lee, Ming Jen ^c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; CARBAMAZEPINE; GABAPENTIN; IMIPRAMINE; ISOLEUCINE; LIDOCAINE; MEXILETINE; PARACETAMOL; PROPRANOLOL; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.7; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CHANNEL GATING; CHO CELL; CONTROLLED STUDY; ERYTHROMELALGIA; ETHNIC GROUP; FEMALE; GENE MUTATION; HIGH TEMPERATURE; HUMAN; HYPERPOLARIZATION; MISSENSE MUTATION; NERVE CELL EXCITABILITY; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PATCH CLAMP; SCN9A GENE; SENSORY NERVE CELL; STEADY STATE; TAIWANESE; WHOLE CELL; WILD TYPE;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; CHO CELLS; CRICETINAE; CRICETULUS; DRUG RESISTANCE; ERYTHROMELALGIA; FEMALE; GENES, DOMINANT; HUMANS; INHIBITORY CONCENTRATION 50; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAV1.7 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; SEQUENCE ANALYSIS, DNA; SODIUM CHANNEL BLOCKERS; TAIWAN; TEMPERATURE; TRANSFECTION;

EID: 84873168898     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0055212     Document Type: Article

References (38)

1. Mitchell WS, (1878) Article I. On a Rare Vaso-motor Neurosis of the Extremities,1 and on the Maladies with which it may be confounded. The American Journal of the Medical Sciences 151: 17-36.
2. Drenth JP, Finley WH, Breedveld GJ, Testers L, Michiels JJ, et al. (2001) The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32. American journal of human genetics 68: 1277-1282.
3. Dib-Hajj SD, Rush AM, Cummins TR, Waxman SG, (2006) Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia. Drug Discovery Today: Disease Mechanisms 3: 343-350.
4. Davis MD, O'Fallon WM, Rogers RS, Rooke TW, (2000) Natural history of erythromelalgia: presentation and outcome in 168 patients. Archives of Dermatology 136: 330-336.
5. Babb RR, Alarcon-Segovia D, Fairbairn JF, (1964) ERYTHERMALGIA. REVIEW OF 51 CASES. Circulation 29: 136-141.
6. Yang Y, Wang Y, Li S, Xu Z, Li H, et al. (2004) Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. Journal of Medical Genetics 41: 171-174.
7. Toledo-Aral JJ, Moss BL, He ZJ, Koszowski AG, Whisenand T, et al. (1997) Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. Proceedings of the National Academy of Sciences of the United States of America 94: 1527-1532.
8. Rogers M, Tang L, Madge DJ, Stevens EB, (2006) The role of sodium channels in neuropathic pain. Seminars in Cell & Developmental Biology 17: 571-581.
9. Djouhri L, Newton R, Levinson SR, Berry CM, Carruthers B, et al. (2003) Sensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav 1.7 (PN1) Na+ channel alpha subunit protein. The Journal of Physiology 546: 565-576.
10. Drenth JPH, Waxman SG, (2007) Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. The Journal of clinical investigation 117: 3603-3609.
11. Cummins TR, Howe JR, Waxman SG, (1998) Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel. The Journal of neuroscience: the official journal of the Society for Neuroscience 18: 9607-9619.
12. Fertleman CR, Ferrie CD, (2006) What's in a name-familial rectal pain syndrome becomes paroxysmal extreme pain disorder. Journal of Neurology, Neurosurgery & Psychiatry 77: 1294-1295.
13. Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, et al. (2010) Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat 31: E1670-1686.
14. Faber CG, Hoeijmakers JGJ, Ahn H-S, Cheng X, Han C, et al. (2012) Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. Annals of Neurology 71: 26-39.
15. Drenth JPH, van Genderen PJJ, Michiels JJ, (1994) Thrombocythemic Erythromelalgia, Primary Erythermalgia, and Secondary Erythermalgia: Three Distinct Clinicopathologic Entities. Angiology 45: 451-454.
16. Thompson GH, Hahn G, Rang M (1979) Erythromelalgia. Clinical orthopaedics and related research: 249-254.
17. Lin YW, Min MY, Lin CC, Chen WN, Wu WL, et al. (2008) Identification and characterization of a subset of mouse sensory neurons that express acid-sensing ion channel 3. Neuroscience 151: 544-557.
18. Lee M-J, Yu H-S, Hsieh S-T, Stephenson DA, Lu C-J, et al. (2007) Characterization of a familial case with primary erythromelalgia from Taiwan. Journal of Neurology 254: 210-214.
19. Cheng X, Dib-Hajj SD, Tyrrell L, Waxman SG, (2008) Mutation I136V alters electrophysiological properties of the NaV1.7 channel in a family with onset of erythromelalgia in the second decade. Molecular Pain 4: 1.
20. Drenth JPH, te Morsche RHM, Guillet G, Taieb A, Kirby RL, et al. (2005) SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. The Journal of investigative dermatology 124: 1333-1338.
21. Natkunarajah J, Atherton D, Elmslie F, Mansour S, Mortimer P, (2009) Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. Clinical and experimental dermatology 34: e640-642.
22. Yarov-Yarovoy V, DeCaen PG, Westenbroek RE, Pan C-Y, Scheuer T, et al. (2012) Structural basis for gating charge movement in the voltage sensor of a sodium channel. Proceedings of the National Academy of Sciences 109: E93-102.
23. Choi J-S, Boralevi F, Brissaud O, Sánchez-Martín J, te Morsche RHM, et al. (2010) Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons. Nature Publishing Group 7: 51-55.
24. Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, et al. (2006) Nav1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons. Journal of Neuroscience 26: 12566-12575.
25. Ahn H-S, Dib-Hajj SD, Cox JJ, Tyrrell L, Elmslie FV, et al. (2010) A new Nav1.7 sodium channel mutation I234T in a child with severe pain. EUROPEAN JOURNAL OF PAIN: 1-7.
26. Cheng X, Dib-Hajj SD, Tyrrell L, te Morsche RH, Drenth JPH, et al. (2011) Deletion mutation of sodium channel NaV1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability. Brain 134: 1972-1986.
27. Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, et al. (2010) Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders. Molecular Pain 6: 24.
28. Choi JS, Dib-Hajj SD, Waxman SG, (2006) Inherited erythermalgia: Limb pain from an S4 charge-neutral Na channelopathy. Neurology 67: 1563-1567.
29. Choi J-S, Zhang L, Dib-Hajj SD, Han C, Tyrrell L, et al. (2009) Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off. Experimental Neurology 216: 383-389.
30. Cummins TR, Dib-Hajj SD, Waxman SG, (2004) Electrophysiological Properties of Mutant Nav1.7 Sodium Channels in a Painful Inherited Neuropathy. Journal of Neuroscience 24: 8232-8236.
31. Estacion M, Choi JS, Eastman EM, Lin Z, Li Y, et al. (2010) Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation. The Journal of Physiology 588: 1915-1927.
32. Fischer TZ, Gilmore ES, Estacion M, Eastman E, Taylor S, et al. (2009) A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Annals of Neurology 65: 733-741.
33. Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, et al. (2009) Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain 132: 1711-1722.
34. Han C, Lampert A, Rush AM, Dib-Hajj SD, Wang X, et al. (2007) Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7. Molecular Pain 3: 3.
35. Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, et al. (2009) Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials. Biochemical and Biophysical Research Communications 390: 319-324.
36. Lampert A, Dib-Hajj SD, Tyrrell L, Waxman SG, (2006) Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating. Journal of Biological Chemistry 281: 36029-36035.
37. Waxman SG, Dib-Hajj S, (2005) Erythermalgia: molecular basis for an inherited pain syndrome. Trends in Molecular Medicine 11: 555-562.
38. Minett MS, Nassar MA, Clark AK, Passmore G, Dickenson AH, et al. (2012) Distinct Nav1.7-dependent pain sensations require different sets of sensory and sympathetic neurons. Nature Communications 3: 791-799.