From mutation to myotonia in sodium channel disorders

Neuromuscular Disorders

Volumn 7, Issue 4, 1997, Pages 241-249

  Cannon, Stephen C ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Periodic paralysis; Skeletal muscle; SkM1

Indexed keywords

POTASSIUM ION; SODIUM CHANNEL; SODIUM ION;

ALPHA CHAIN; ARTICLE; COMPUTER MODEL; DISEASE PREDISPOSITION; GENE MUTATION; GENOTYPE; HUMAN; HYPERKALEMIA; MYOTONIA; PERIODIC PARALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SKELETAL MUSCLE; THOMSEN DISEASE;

AMINO ACID SEQUENCE; ANIMALS; COMPUTER SIMULATION; HUMANS; HYPOKALEMIA; MOLECULAR SEQUENCE DATA; MYOTONIA CONGENITA; PARALYSIS; PERIODICITY; POINT MUTATION; SODIUM CHANNELS;

EID: 0030998386     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00430-6     Document Type: Article

References (44)

1. Cannon SC. Ion channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci 1996;19(1):3-10.
2. Hoffman EP, Lehmann-Horn F, Rüdel R. Over-excited or inactive: ion channels in muscle disease. Cell 1995;80(5):681-6.
3. Barchi RL. Molecular pathology of the skeletal muscle sodium channel. Annu Rev Physiol 1995;57:355-85.
4. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257(5071):797-800.
5. Rüdel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 1993;50(11):1241-8.
6. Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993;2(9):1349-53.
7. Ricker K, Lehmann-Horn F, Moxley RT. Myotonia Fluctuans. Arch Neurol 1990;47:268-72.
8. Ricker K, Moxley RT III, Heine R, Lehmann-Horn F. Myotonia fluctuans: a third type of muscle sodium channel disease. Arch Neurol 1994;51(11):1095-102.
9. Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994;44(8):1500-3.
10. Lehmann-Horn F, Rüdel R, Dengler R, Lorkovic H, Haass A, Ricker K. Membrane defects in paramyotonia congenita with and without myotonia in a warm environment. Muscle Nerve 1981;4(5):396-406.
11. Lehmann-Horn F, Rüdel R, Ricker K, Lorkovic H, Dengler R, Hopf HC. Two cases of adynamia episodica hereditaria:in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve 1983;6(2):113-21.
12. Lehmann-Horn F, Kuther G, Ricker K, Grafe P, Ballanyi K, Rüdel R. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 1987;10(4):363-74.
13. Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990;250(4983):1000-2.
14. Kraner S, Yang J, Barchi R. Structural inferences for the native skeletal muscle sodium channel as derived from patterns of endogenous proteolysis. J Biol Chem 1989;264(22):13273-80.
15. McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet 1993;2(6):745-9.
16. Trimmer JS, Cooperman SS, Tomiko SA, et al. Primary structure and functional expression of a mammalian skeletal muscle sodium channel. Neuron 1989;3(1):33-49.
17. Aldrich RW, Stevens CF. Voltage-dependent gating of single sodium channels from mammalian neuroblastoma cells. J Neurosci 1987;7:418-31.
18. Cannon SC, Brown RH Jr, Corey DP. A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 1991;6(4):619-26.
19. Tahmoush AJ, Schaller KL, Zhang P, Hyslop T, Heiman-Patterson T, Caldwell JH. Muscle sodium channel inactivation defect in paramyotonia congenita with the Thr1313Met mutation. Neuromusc Disord 1994;4:447-54.
20. Lerche H, Heine R, Pika U, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol 1993;470:13-22.
21. Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F. Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol 1996;39(5):599-608.
22. Cota G, Armstrong CM. Sodium channel gating in clonal pituitary cells: The inactivation step is not voltage dependent. J Gen Physiol 1989;94:213-32.
23. Chahine M, George AL Jr, Zhou M, et al. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 1994;12(2):281-94.
24. Hayward LJ, Brown RH Jr, Cannon SC. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J Gen Physiol 1996;107(5):559-76.
25. Mitrovic N, George AL Jr, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol 1995;487(Pt 1):107-14.
26. Mitrovic N, George AL Jr, Heine R, et al. K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. J Physiol 1994;478(Pt 3):395-402.
27. Cannon SC, Strittmatter SM. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993;10(2):317-26.
28. Cummins TR, Zhou J, Sigworth FJ, et al. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993;10(4):667-78.
29. Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 1994;91(26):12785-9.
30. George AL Jr, Komisarof J, Kallen RG, Barchi RL. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol 1992;31(2):131-7.
31. Catterall WA. Structure and function of voltage-gated ion channels. Annu Rev Biochem 1995;64:493-531.
32. West JW, Patton DE, Scheuer T, Wang Y, Goldin AL, Catterall WA. A cluster of hydrophobic amino acid residues required for fast Nachannel inactivation. Proc Natl Acad Sci USA 1992;89:10910-4.
33. Armstrong CM, Bezanilla F. Inactivation of the sodium channel. II: gating current experiments. J Gen Physiol 1977;70(5):567-90.
34. Hayward LJ, Brown RH Jr, Cannon SC. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys J 1997;72(3):1204-19.
35. Almers W, Stanfield PR, Stuhmer W. Slow changes in currents through sodium channels in frog muscle membrane. J Physiol 1983;339:253-71.
36. Ruff RL, Simoncini L, Stuhmer W. Slow sodium channel inactivation in mammalian muscle: a possible role in regulating excitability. Muscle Nerve 1988;11(5):502-10.
37. Rudy B. Slow Inactivation of the sodium conductance in squid giant axons: pronase resistance. J Physiol 1978;283:1-21.
38. Cummins TR, Sigworth FJ. Impaired slow inactivation in mutant sodium channels. Biophys J 1996;71:227-36.
39. Cannon SC, Corey DP. Loss of Na+ channel inactivation by anemone toxin (ATX II) mimics the myotonic state in hyperkalaemic periodic paralysis. J Physiol 1993;466:501-20.
40. Freygang WH, Goldstein DA, Hellam DC. The after-potential that follows trans of impulses in frog muscle fibers. J Gen Physiol 1964;47:929-52.
41. Adrian RH, Bryant SH. On the repetitive discharge in myotonic muscle fibres. J Physiol 1974;240(2):505-15.
42. Cannon SC, Brown RH Jr, Corey DP. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J 1993;65(1):270-88.
43. Ruff RL. Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis. Biophys J 1994;66(2 Pt 1):542-5.
44. Cannon SC. A predilection for myotonia or paralysis based on different defects in Na channel inactivation. J Gen Physiol 1994;104:20a.