Ion channel mutations and diseases of skeletal muscle

Neurobiology of Disease

Volumn 4, Issue 3-4, 1997, Pages 254-264

  Barchi, Robert L ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM TRANSPORT; CHANNEL GATING; GENE MUTATION; MUSCLE CONTRACTILITY; MYOTONIA; NEUROMUSCULAR SYNAPSE; NONHUMAN; PATHOPHYSIOLOGY; PERIODIC PARALYSIS; PRIORITY JOURNAL; REVIEW; SODIUM TRANSPORT;

EID: 0030668811     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1997.0158     Document Type: Article

References (91)

1. Abdalla J., Casley W. L., Cousin H. K. Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35. Am. J. Hum. Genet. 51:1992;579-584.
2. Adrian R. H., Bryant S. H. On the repetitive discharge in myotonic muscle fibers. J. Physiol. 240:1974;505-515.
3. Barchi R. L. Myotonia: An evaluation of the chloride hypothesis. Arch. Neurol. 32:1975;175-180.
4. Barchi R. L. Probing the molecular structure of the voltage-dependent sodium channel. Annu. Rev. Neurosci. 11:1988;455-495.
5. Barchi R. L. Molecular pathology of the skeletal muscle sodium channel. Annu. Rev. Physiol. 57:1995;355-385.
6. Barchi R. The non-dystrophic myotonic syndromes. Handbook of Clinical Neurology. 1992;Elsevier, Amsterdam. p. 261-286.
7. Becker P. E. Myotonia Congenita and Syndromes Associated with Myotonia. 1977;Stuttgart, Thieme.
8. Bennett P., Yazawa K., Makita N., George A. Molecular mechanism for an inherited arrhythmia. Nature. 376:1995;683-685.
9. Bryant S. H. Myotonia in the goat. Ann. N.Y. Acad. Sci. 371:1979;314-324.
10. Burgess D., Kohrman D., Galt J., Plummer N., Jones J., Spear B., Meisler M. Mutation of a new sodium channel gene, SCN8a, in the mouse "motor endplate disease." Nature Genet. 10:1995;461-465.
11. Cannon S. C. Ion channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci. 19:1996;3-10.
12. Cannon S. C., Brown R. H., Corey D. P. A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation. Neuron. 6:1991;619-626.
13. Catterall W. A. Molecular properties of voltage-sensitive sodium channels. Annu. Rev. Biochem. 55:1986;953-985.
14. Catterall W. A. Structure and function of voltage-sensitive ion channels. Science. 242:1988;50-61.
15. +2+. Ann. N. Y. Acad. Sci. 707:1993;1-19.
16. Chahine M., George A. L., Zhou M., Ji S., Sun W. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron. 12:1993;281-294.
17. Cummins T. R., Sigworth F. J. Impaired slow inactivation in mutant sodium channels. Biophys. J. 71:1996;227-236.
18. +. Neuron. 10:1993;667-678.
19. Curran M., Splawski I., Timothy K., Vincent G., Green E., Keating M. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 80:1995;795-803.
20. Fontaine B., Vale-Santos J. M., Jurkat-Rott K., Reboul J., Plassart E., Rime C. S., Elbaz A. Mapping of hypokalaemic periodic paralysis (HypoPP) to chromosome 1q31-132 in three European families. Nature Genet. 6:1994;267-272.
21. Furman R. E., Barchi R. L. The pathophysiology of myotonia produced by aromatic carboxylic acids. Ann. Neurol. 4:1978;357-365.
22. Gellen M. E., George A. L., Chen I. Primary structure of a human cardiac muscle sodium channel. Biophys. J. 59:1991;69A.
23. George A. L., Crackower M. A., Abdalla J. A. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet. 3:1993a;305-310.
24. George A. L., Iyer G. S., Kleinfield R., Kallen R. G., Barchi R. L. Genomic organization of the human skeletal muscle sodium channel gene. Genomics. 15:1993b;598-606.
25. George A. L., Komisarof J., Kallen R. G., Barchi R. L. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann. Neurol. 31:1992;131-137.
26. George A. L., Ledbetter D. H., Kallen R. G., Barchi R. L. Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1-25.3. Genomics. 9:1991;555-556.
27. George A. L., Sloan-Brown K., Fenichel G. M., Michell G. A., Spiegel R., Pascuzzi M. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum. Mol. Genet. 3:1994;2071-2072.
28. +. Cytogenet. Cell Genet. 68:1995;67-70.
29. Gronemeier M., Condi A., Prosser J. Nonsense and missense mutations in the muscle chloride channel Clc-1 of myotonic mice. J. Biol. Chem. 269:1994;5963.
30. Hayward L., Brown R., Cannon S. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys. J. 72:1997;1204-1219.
31. Heine R., George A. L., Pika U., Deymeer F., Rüdel R., Lehmann-Horn F. Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 bp deletion. Hum. Mol. Genet. 3:1994;1123-1128.
32. Heine R., Pika U., Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Mol. Genet. 2:1993;1349-1353.
33. Hoshi T., Zagotta W. N., Aldrich R. W. Biophysical and molecular mechanisms of Shaker potassium channel inactivation. Science. 250:1990;533-538.
34. Hudson A. J., Ebers G. C., Bulman D. E. The skeletal muscle sodium and chloride channel diseases. Brain. 118:1995;547-563.
35. Jentsch T. J. Molecular physiology of anion channels. Curr. Opin. Cell Biol. 6:1994;600.
36. Jentsch T., Günther W., Pusch M., Schwappach B. Properties of voltage-gated chloride channels of the CIC gene family. J. Physiol. 482P:1995;19S-25S.
37. Jentsch T. J., Steinmeyer K., Schwarz G. Primary structure ofTorpedo marmorataXenopus. Nature. 348:1990;510.
38. Ji S., Sun W., George A. L., Horn R., Barchi R. Voltage-dependent regulation of modal gating in the rat SkM1 sodium channel expressed inXenopus. J. Gen. Physiol. 104:1994;625-643.
39. Jurkat-Rott K., Lehmann-Horn F., Elbaz A., Heine R., Gregg R. G., Hogan K., Powers P. A. A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Mol. Genet. 3:1994;1415-1419.
40. Kallen R. G., Cohen S. A., Barchi R. L. Structure, function and expression of voltage-dependent sodium channels. Mol. Neurobiol. 7:1994;383-428.
41. Kieferle S., Fong P., Bens M., Vandewalle A., Jentsch T. J. Two highly homologous members of the CIC chloride channel family in both rat and human kidney. Proc. Natl. Acad. Sci. USA. 91:1994;6943-6947.
42. Koch M. C., Baumbach K., George A. L., Ricker K. Paramyotonia congenita without paralysis on exposure to cold: A novel mutation in the SCN4A gene (Val1293lle). NeuroReport. 6:1995;2001-2004.
43. Koch M. C., Steinmeyer K., Lorenz C. The skeletal muscle chloride channel in dominant and recessive myotonia. Science. 257:1992;797.
44. Kohrman D., Smith M., Goldin A., Harris J., Meisler M. A missense mutation in the sodium channel SCN8a is responsible for cerebellar ataxia in the mouse mutantjolting. J. Neurosci. 16:1996;5993-5999.
45. Koty P. P., Marks H. G., Turel A., Flagler D., Angelini C., Pegoraro E., Vancott A. C. Linkage analysis of Thomsen and Becker myotonia families. Am. J. Hum. Genet. Suppl. 55:1994;A227.
46. Kwiecinski H., Lehmann-Horn F., Rüdel R. Drug-induced myotonia in human intercostal muscle. Muscle Nerve. 11:1988;576-581.
47. 1S. FEBS Lett. 382:1996;244-248.
48. Lerche H., Heine R., Pika U., George A. L., Mitrovic N. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J. Physiol. 470:1993;13-22.
49. Lerche H., Klugbauer N., Lehmann-Horn F., Hofmann F., Melzer W. Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP receptor mutation causing hypokalemic periodic paralysis. Pflügers Arch. Eur. J. Physiol. 431:1996;461-463.
50. Lehmann-Horn F., Engel A., Ricker K., Rüdel R. The periodic paralyses and paramyotonia congenita. Engel A. G., Franzini-Armstron C. Myology. 1994;McGraw-Hill, New York.
51. Lehmann-Horn F., Küther G., Ricker K., Grafe P., Ballanyi K., Rüdel R. Adynamia episodica hereditaria with myotonia: a non-activating sodium current and the effect of extracellular pH. Muscle Nerve. 10:1987a;363-374.
52. Lehmann-Horn F., Rüdel R., Ricker K. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve. 10:1987b;633-641.
53. Lehmann-Horn F., Mailänder V., Heine R., George A. L. Myotonia levior is a chloride channel disorder. Hum. Mol. Genet. 4:1995;1397-1402.
54. Lipicky R. J., Bryant S. H. A biophysical study of human myotonias. Desmedt J. E. New Developments in Electromyography and Clinical Neurophysiology. 1973;451-463 Karger, Basel.
55. Lorenz C., Meyer-Klein C., Steinmeyer K. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum. Mol. Genet. 3:1994;941-946.
56. Mäilander V., Heine R., Deymeer F., Lehmann-Horn F. Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am. J. Hum. Genet. 58:1996;317-324.
57. McClatchey A. I., McKenna-Yasek D., Cros D., Worthen H. G., Kunel R. W., DeSilva S. M. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genet. 2:1992;148-152.
58. Meyer-Kleine C., Steinmeyer K., Ricker K. Spectrum of mutations in the major human skeletal muscle chloride channel gene (ClC-1) leading to myotonia. Am. J. Hum. Genet. 57:1995;1325-1334.
59. Miller C., Richard E. A. The voltage-dependent chloride channel ofTorpedo. Alvarez-Leefmans F. J., Russell J. M. Chloride Channels and Carriers in Nerve Muscle and Glial Cells. 1990;383-405 Plenum, New York.
60. Miller C., White M. M. Dimeric structure of single chloride channels fromTorpedo. Proc. Natl. Acad. Sci. USA. 81:1984;2772-2775.
61. ++. J. Physiol. 478:1994;395-402.
62. Mitrovic N., George A. L. 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. 487:1995;107-114.
63. +. Neurosci. Lett. 214:1996;9-12.
64. Palade P. T., Barchi R. L. Characteristics of the chloride conductance in muscle fibers of the rat diaphragm. J. Gen. Physiol. 69:1977;325-342.
65. Plassart E., Eymard B., Maurs L., Hauw J. J., Lyon-Caen O., Fardeau M., Fontaine B. Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J. Neurosci. 142:1996;126-133.
66. Ptacek L. J., George A. L., Barchi R. L., Griggs R. C., Riggs J. E. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 8:1992;891-897.
67. Ptacek L. J., Gouw L., Kwiecinski H., McManis P., Mendell J. R. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann. Neurol. 33:1993;300-307.
68. Ptacek L. J., Tawil R., Griggs R. C., Engel A. G., Layzer R. B., Kwiecinski H., McManis P. G. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 77:1994;863-868.
69. Pusch M., Jentsch T. Molecular physiology of voltage-gated chloride channels. Physiol. Rev. 74:1994;813-827.
70. Pusch M., Steinmeyer K., Jentsch T. J. Low single channel conductance of the major skeletal muscle chloride channel, CIC-1. Biophys. J. 66:1994;149.
71. Pusch M., Steinmeyer K., Koch M. C., Jentsch T. J. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron. 15:1995;1455-1463.
72. Ricker K., Camacho L. M., Grafe P., Lehmann-Horn F., Rüdel R. Adynamia episodica hereditaria: What causes the weakness? Muscle Nerve. 12:1989;883-891.
73. Rios E., Pizarro G. Voltage sensor of excitation-contraction coupling in skeletal muscle. Physiol. Rev. 71:1991;849-908.
74. J. Rosenfeld, K. Sloan-Brown, A. L. George, 1997, A novel muscle sodium channel mutation causes painful congenital myotonia.
75. Ruff R. L. Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis. Biophys. J. 66:1994;542.
76. Rüdel R., Lehmann-Horn F. Membrane changes in cells from myotonia patients. Physiol. Rev. 65:1985;310-356.
77. Rüdel R., Lehmann-Horn F., Ricker K., Küther G. Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve. 7:1984;110-120.
78. Schipperheyn J., Wintzen A., Buruma O. Vinken. Handbook of Clinical Neurology. 1992;457-477 Elsevier, Amsterdam.
79. Schwartz O., Jampel R. Congenital blepharophemosis associated with a unique generalized myopathy. Arch. Ophthalmol. 68:1962;59-57.
80. Sipos I., Jurkatt-Rott K., Harasztosi C., Fontaine B., Kovacs L., Melzer W., Lehmann-Horn F. Skeletal muscle DHP receptor mutations alter currents in human hypokalaemic periodic paralysis myotubes. J. Physiol. 483:1995;299-306.
81. Steinmeyer K., Klocke R., Ortland C. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature. 354:1991a;304.
82. Steinmeyer K., Lorenz C., Pusch M. Mutimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita. EMBO J. 13:1994;737.
83. Steinmeyer K., Ortland C., Jentsch T. J. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature. 354:1991b;301.
84. Stühmer W. Structure-function studies of voltage-gated ion channels. Annu. Rev. Biophys. Biophys. Chem. 20:1991;65-78.
85. Tang L., Kallen R. G., Horn R. Role of an S4-S5 linker in sodium channel inactivation probed by mutagenesis and a peptide blocker. J. Gen. Physiol. 108:1996;89-104.
86. Thomsen J. Tonische Krämpfe in wilkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition. Arch. Psychiatr. Nervenkrank. 6:1876;702.
87. Wang J., Dubowitz V., Lehmann-Horn F., Ricker K., Ptacek L., Hoffman E. In vivo sodium channel structure-function studies: Consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IV54. Soc. Gen. Physiol. Ser. 50:1995a;77-88.
88. Wang Q., Shen J., Splawski I. SCN5A mutations associated with an inherited cardiac arrhythmia, the long QT syndrome. Cell. 80:1995b;805-811.
89. +. Proc. Natl. Acad. Sci. USA. 89:1992;10910-10914.
90. Yang N., Ji S., Zhou M., Ptacek L. J., Barchi R. L. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc. Natl. Acad. Sci. USA. 91:1994;12285-12789.
91. Zhang J., George A. L., Griggs R. C., Fouad G. T., Roberts J., Kwiecinski H., Connolly A. M., Ptacek L. J. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology. 47:1996;993-998.