Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant

Biophysical Journal

Volumn 73, Issue 4, 1997, Pages 1896-1903

  Richmond, J E ^a   VanDeCarr, D ^b   Featherstone, D E ^a   George Jr , A L ^b   Ruben, P C ^c  

^a UNIVERSITY OF UTAH   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UTAH STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; POTASSIUM ION; SODIUM CHANNEL; SODIUM ION;

ANIMAL CELL; ARTICLE; COMPUTER SIMULATION; MEMBRANE ELECTROPHYSIOLOGY; MYOTONIA; NONHUMAN; OOCYTE; PHENOTYPE; SITE DIRECTED MUTAGENESIS; SKELETAL MUSCLE; XENOPUS;

ANIMALIA;

EID: 0030771337     PISSN: 00063495     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3495(97)78220-1     Document Type: Article

References (30)

1. Aldrich, R. W., and C. F. Stevens. 1987. Voltage-dependent gating of single sodium channels from mammalian neuroblastoma cells. J. Neurosci. 7:418-431.
2. Barchi, R. L. 1995. Molecular pathology of the skeletal muscle sodium channel. Annu. Rev. Physiol. 57:355-385.
3. Cannon, S. C. 1996. Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci. 19:3-10.
4. Cannon, S. C., R. H. Brown, Jr., and D. P. Corey. 1993. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys. J. 65:270-288.
5. Chahine, M., A. L. George, Jr., M. Zhou, S. Ji, W. Sun, R. L. Barchi, and R. Horn. 1994. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron. 12:281-294.
6. Cummins, T. R., and F. J. Sigworth. 1996. Impaired slow inactivation in mutant sodium channels. Biophys. J. 71:227-236.
7. Featherstone, D. E., J. E. Richmond, and P. C. Ruben. 1996. Interaction between fast and slow inactivation in Skml sodium channels. Biophys. J. 71:3098-3109.
8. Filatov, G. N., S. D. Kraner, and R. L. Barchi. 1997. Secondary structure of the D4/S4-5 linker probed by systematic cysteine accessibility method. Biophys. J. 72:A260.
9. Hayward, L. J., R. H. Brown, Jr., and S. C. Cannon. 1997. Deficient slow inactivation in a subset of mutant sodium channels associated with periodic paralysis. Biophys. J. 72:A116.
10. Hayward, L. L., R. H. Brown, Jr., and S. C. Cannon. 1996. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J. Gen. Physiol. 107:559-576.
11. Heine, R., U. Pika, and F. Lehmann-Horn. 1993. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Mol. Genet. 2:1349-1353.
12. Isom, L., L. K. S. De Jongh, D. E. Patton, B. F. X. Reber, J. Offord, H. Charbonneau, K. Walsh, A. L. Goldin, and W. A. Catterall. 1992. Primary structure and functional expression of the β1 subunit of the rat brain sodium channel. Science. 256:839-842.
13. Ji, S., A. L. George, Jr., R. Horn, and R. L. Barchi. 1996. Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in HSkM1 sodium channel gating. J. Gen. Physiol. 107: 183-194.
14. Lerche, H., R. Heine, U. Pika, A. L. George, Jr., N. Mitrovic, M. Browatzki, T. Weis, M. Rivet-Bastide, C. Franke, M. Lomonaco, K. Rickes, and F. Lehmann-Horn. 1993. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J. Physiol. 470:13-22.
15. + channel mutation in adult human skeletal muscle. Ann. Neurol. 39:599-608.
16. Lerche, H., W. Peter, N. Mitrovic, R. Fleischhauer, U. Pika-Hartlaub, M. Schiebe, and F. Lehmann-Horn. 1997. Role in fast inactivation of the IV/S4-S5 loop of the human muscle sodium channel probed by cysteine mutagenesis. Biophys. J. 72:A260.
17. McPhee, J. C., D. S. Ragsdale, T. Scheuer, and W. A. Catterall. 1994. A mutation in the segment IVS6 disrupts fast inactivation of sodium channels. Proc. Natl. Acad. Sci. USA. 91:12346-12350.
18. McPhee, J. C., D. S. Ragsdale, T. Scheuer, and W. A. Catterall. 1995. A critical role for transmembrane segment IVS6 of the sodium channel a subunit in fast inactivation. J. Biol. Chem. 270:12025-12034.
19. + channel by the V1589M mutation. J. Physiol. 478.3:395-402.
20. Mitrovic, N., A. L. George, Jr., H. Lerche, S. Wagner, C. Fahlke, and F. Lehmann-Horn. 1995. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J. Physiol. 487.1:107-114.
21. Ptacek, L., and R. C. Griggs. 1996. Familial periodic paralysis. In Molecular Biology Membrane Transport Disorders. S. G. Schultz, editor. Plenum Press, New York. 625-642.
22. Ptacek, L. J., R. Tawil, R. C. Griggs, G. Meola, P. McManis, R. J. Barohn, J. R. Mendell, C. Harris, R. Spitzer, F. Santiago, and M. F. Leppert. 1994. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 44:1500-1503.
23. + channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. J. Physiol. 499:589-600.
24. Smith, M. R., E. J. Yu, and A. L. Goldin. 1997. Interaction between the putative sodium channel inactivation particle and domain III S4-S5. Biophys. J. 72:A261.
25. Tahmoush, A. J., K. L. Schaller, P. Zhang, T. Hyslop, T. Heiman-Patterson, and J. H. Caldwell. 1994. Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation. Neuromusc. Dis. 4(5/6):447-454.
26. Tang, L., and R. G. Kallen. 1997. Mutations in cytoplasmic portions of sodium channels affecting inactivation: S4-5 segments. Biophys. J. 72:A260.
27. Tang, L., R. G. Kallen, and R. Horn. 1996. Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and peptide blocker. J. Gen. Physiol. 108:89-104.
28. Wang, J., V. Dubowitz, F. Lehmann-Horn, K. Ricker, L. Ptacek, and E. P. Hoffman. 1995. In vivo channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. In Ion Channels and Genetic Diseases. Rockefeller University Press, New York. 77-88.
29. +-channel inactivation. Proc. Natl. Acad. Sci. USA. 89: 10910-10914.
30. Yang, N., S. Ji, M. Zhou, L. J. Ptacek, R. L. Barchi, R. Horn, and A. L. George. Jr. 1994. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc. Natl. Acad. Sci. USA. 91:12785-12789.