Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials

Biochemical and Biophysical Research Communications

Volumn 390, Issue 2, 2009, Pages 319-324

  Lampert, Angelika ^a,b   Dib Hajj, Sulayman D ^a,b   Eastman, Emmanuella M ^a,b   Tyrrell, Lynda ^a,b   Lin, Zhimiao ^c   Yang, Yong ^c   Waxman, Stephen G ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^c PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Erythromelalgia; Inactivation; Mutation; Pain; Patch clamp; Sodium channel

Indexed keywords

UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL NAV1.7;

ARTICLE; CELL STRAIN HEK293; CHANNEL GATING; CONTROLLED STUDY; ERYTHROMELALGIA; GENE MUTATION; HEAT; HUMAN; HUMAN CELL; HYPERPOLARIZATION; NEUROPATHIC PAIN; NOCICEPTIVE RECEPTOR; PRIORITY JOURNAL; PROTEIN DOMAIN; VOLTAGE CLAMP;

AMINO ACID SEQUENCE; CELL LINE; ERYTHROMELALGIA; HUMANS; ION CHANNEL GATING; MEMBRANE POTENTIALS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; SODIUM CHANNELS;

EID: 70350125876     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2009.09.121     Document Type: Article

References (31)

1. Goldberg Y., Macfarlane J., Macdonald M., et al. Clin. Genet. 71 (2007) 311-319
2. Cox J.J., Reimann F., Nicholas A.K., et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature 444 (2006) 894-898
3. Ahmad S., Dahllund L., Eriksson A.B., et al. A stop codon mutation in SCN9A causes lack of pain sensation. Hum. Mol. Genet. 16 (2007) 2114-2121
4. v1.7 and human pain disorders. Trends Neurosci. 30 (2007) 555-563
5. Drenth J.P., and Waxman S.G. Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. J. Clin. Invest. 117 (2007) 3603-3609
6. Fischer T.Z., Gilmore E.S., Estacion M., et al. Ann. Neurol. 65 (2009) 733-741
7. Choi J.S., Zhang L., Dib-Hajj S.D., et al. Exp. Neurol. 216 (2009) 383-389
8. Dib-Hajj S.D., Rush A.M., Cummins T.R., et al. Brain 128 (2005) 1847-1854
9. Harty T.P., Dib-Hajj S.D., Tyrrell L., et al. J. Neurosci. 26 (2006) 12566-12575
10. Rush A.M., Dib-Hajj S.D., Liu S., et al. A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. Proc. Natl. Acad. Sci. USA 103 (2006) 8245-8250
11. Sheets P.L., Jackson Ii J.O., Waxman S.G., et al. J. Physiol. (Lond.) 581 (2007) 1019-1031
12. Han C., Dib-Hajj S.D., Lin Z., et al. Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain 132 (2009) 1711-1722
13. Han C., Rush A.M., Dib-Hajj S.D., et al. Ann. Neurol. 59 (2006) 553-558
14. Catterall W.A., Goldin A.L., and Waxman S.G. International union of pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol. Rev. 57 (2005) 397-409
15. Cannon S.C. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu. Rev. Neurosci. 29 (2006) 387-415
16. George A.L. Inherited disorders of voltage-gated sodium channels. J. Clin. Invest. 115 (2005) 1990-1999
17. Lossin C. A catalog of SCN1A variants. Brain Dev. 31 (2009) 114-130
18. Drenth J.P., Te Morsche R.H., Guillet G., et al. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J. Invest. Dermatol. 124 (2005) 1333-1338
19. Takahashi K., Saitoh M., Hoshino H., et al. A case of primary erythermalgia, wintry hypothermia and encephalopathy. Neuropediatrics 38 (2007) 157-159
20. Herzog R.I., Cummins T.R., Ghassemi F., et al. J. Physiol. (Lond.) 551 (2003) 741-750
21. Hamill O.P., Marty A., Neher E., et al. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch. 391 (1981) 85-100
22. Yu F.H., and Catterall W.A. Overview of the voltage-gated sodium channel family. Genome Biol. 4 (2003) 207
23. Choi J.S., Dib-Hajj S.D., and Waxman S.G. Inherited erythermalgia. Limb pain from an S4 charge-neutral Na channelopathy. Neurology 67 (2006) 1563-1567
24. Stuhmer W., Conti F., Suzuki H., et al. Structural parts involved in activation and inactivation of the sodium channel. Nature 339 (1989) 597-603
25. Kontis K.J., and Goldin A.L. Sodium channel inactivation is altered by substitution of voltage sensor positive charges. J. Gen. Physiol. 110 (1997) 403-413
26. Chen L.Q., Santarelli V., Horn R., et al. A unique role for the S4 segment of domain 4 in the inactivation of sodium channels. J. Gen. Physiol. 108 (1996) 549-556
27. Sokolov S., Scheuer T., and Catterall W.A. Gating pore current in an inherited ion channelopathy. Nature 446 (2007) 76-78
28. Kontis K.J., Rounaghi A., and Goldin A.L. Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains. J. Gen. Physiol. 110 (1997) 391-401
29. Chanda B., and Bezanilla F. Tracking voltage-dependent conformational changes in skeletal muscle sodium channel during activation. J. Gen. Physiol. 120 (2002) 629-645
30. Lampert A., O'Reilly A.O., Dib-Hajj S.D., et al. J. Biol. Chem. 283 (2008) 24118-24127
31. Armstrong C.M. Sodium channels and gating currents. Physiol. Rev. 61 (1981) 644-683