Enhanced slow inactivation by V445M: A sodium channel mutation associated with myotonia

Biophysical Journal

Volumn 76, Issue 2, 1999, Pages 861-868

  Takahashi, Masanori P ^a   Cannon, Stephen C ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM; SODIUM CHANNEL;

ARTICLE; CHANNEL GATING; HUMAN; HUMAN CELL; HYPERPOLARIZATION; MISSENSE MUTATION; MUSCLE WEAKNESS; MYOTONIA; PERIODIC PARALYSIS; PROTEIN DOMAIN; SKELETAL MUSCLE; SODIUM CURRENT; SODIUM TRANSPORT;

EID: 0032988294     PISSN: 00063495     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3495(99)77249-8     Document Type: Article

References (33)

1. Ackerman, M. J. 1998. The long QT syndrome: ion channel diseases of the heart. Mayo Clin. Proc. 73:250-269.
2. Almers, W., P. R. Stanfield, and W. Stühmer. 1983. Slow changes in currents through sodium channels in frog muscle membrane. J. Physiol. (Lond.) 339:253-271.
3. Bennett, P., D. Wang, P. Ruben, and A. L. George, Jr. 1998. Functional consequences of a D1/S6 sodium channel mutant associated with myotonia. Biophys. J. 74:A26.
4. + channel are not essential for channel activity or zinc modulation. Biophys. J. 66:694-699.
5. Cannon, S. C. 1996. Slow inactivation of sodium channels: more than just a laboratory curiosity. Biophys. J. 71:5-7.
6. Cannon, S. C. 1997. From mutation to myotonia in sodium channel disorders. Neuromuscul. Disord. 7:241-249.
7. Cannon, S. C. 1998. Ion channel defects in the hereditary myotonias and periodic paralyses. In Molecular Neurology. J. B. Martin, editor. Scientific American Inc., New York. 257-277.
8. 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.
9. Chandler, W. K., and H. Meves. 1970. Slow changes in membrane permeability and long-lasting action potentials in axons perfused with fluoride solutions. J. Physiol. (Lond.) 211:707-728.
10. Cummins, T. R., and F. J. Sigworth. 1996. Impaired slow inactivation in mutant sodium channels. Biophys. J. 71:227-236.
11. + channel mutation causing hyperkalemic periodic paralysis. Neuron. 10: 667-678.
12. Featherstone, D. E., J. E. Richmond, and P. C. Ruben. 1996. Interaction between fast and slow inactivation in Skm1 sodium channels. Biophys. J. 71:3098-3109.
13. Fleig, A., J. M. Fitch, A. L. Goldin, M. D. Rayner, J. G. Starkus, and P. C. Ruben. 1994. Point mutations in IIS4 alter activation and inactivation of rat brain IIA Na channels in Xenopus oocyte macropatches. Pflügers Arch. 427:406-413.
14. George, A. L., Jr., J. Komisarof, R. G. Kallen, and R. L. Barchi. 1992. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann. Neurol. 31:131-137.
15. Green, D. S., A. L. George, Jr., and S. C. Cannon. 1998. Sodium channel gating defects caused by missence mutations in S6 segments associated with myotonia: S804F and V1293I. J. Physiol. (Lond.) 510:685-694.
16. Hayward, L. J., 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.
17. Hayward, L. J., R. H. Brown, Jr., and S. C. Cannon. 1997. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys. J. 72:1204-1219.
18. + channels: Effects of alterations in the carboxy-terminal region. Neuron. 7:547-556.
19. Jurman, M. E., L. M. Boland, Y. Liu, and G. Yellen. 1994. Visual identification of individual transfected cells for electrophysiology using antibody-coated beads. Biotechniques. 17:874-881.
20. 1-subunit cDNA from human brain. Hum. Mol. Genet. 2:745-749.
21. 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. (Lond.) 487:107-114.
22. + channel mutation associated with paramyotonia congenita in a human cell line. J. Physiol. (Lond.) 507:721-727.
23. + channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. J. Physiol. (Lond.) 499:589-600.
24. Richmond, J. E., D. VanDeCarr, D. E. Featherstone, A. L. George, Jr., and P. C. Ruben. 1997b. Defective fast inactivation recovery and deactivation account for sodium channel myotonia in I1160V mutant. Biophys. J. 73:1896-1903.
25. Rosenfeld, J., K. Sloan-Brown, and A. L. George, Jr. 1997. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann. Neurol. 42:811-814.
26. Ruben, P. C., J. G. Starkus, and M. D. Rayner. 1992. Steady-state availability of sodium channels. Interactions between activation and slow inactivation. Biophys. J. 61:941-955.
27. Rudy, B. 1978. Slow Inactivation of the sodium conductance in squid giant axons: pronase resistance. J. Physiol. (Lond.) 283:1-21.
28. + channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis. Biophys. J. 66: 542-545.
29. Ruff, R. L., L. Simoncini, and W. Stühmer. 1988. Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability. Muscle Nerve. 11:502-510.
30. + channels. J. Gen. Physiol. 110:23-33.
31. + channels. J. Gen. Physiol. 111:83-93.
32. Wang, S.-Y., and G. K. Wang. 1997. A mutation in segment I-S6 alters slow inactivation of sodium channels. Biophys. J. 72:1633-1640.
33. Zhang, J. F., P. T. Ellinor, R. W. Aldrich, and R. W. Tsien. 1994. Molecular determinants of voltage-dependent inactivation in calcium channels. Nature. 372:97-100.