A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization

Neuroscience Letters

Volumn 494, Issue 2, 2011, Pages 155-160

  Tsujino, Akira ^a   Kaibara, Muneshige ^a   Hayashi, Hideki ^a   Eguchi, Hiroto ^a   Nakayama, Susumu ^a   Sato, Katsuya ^a   Fukuda, Taku ^a   Tateishi, Yohei ^a   Shirabe, Susumu ^a   Taniyama, Kohtaro ^a   Kawakami, Atsushi ^a  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

Author keywords

ClC 1; Kinetics; Mutation; Myotonia congenita; Whole cell recording

Indexed keywords

CHLORIDE CHANNEL; CLC 1 PROTEIN; HETERODIMER; UNCLASSIFIED DRUG;

ARTICLE; CHANNEL GATING; CHLORIDE CONDUCTANCE; CLCN1 GENE; CONTROLLED STUDY; DEPOLARIZATION; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; THOMSEN DISEASE;

AGED; AMINO ACID SEQUENCE; CHLORIDE CHANNELS; HUMANS; ION CHANNEL GATING; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOTONIA CONGENITA; PATCH-CLAMP TECHNIQUES; PROTEIN STRUCTURE, SECONDARY;

EID: 79953283287     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.03.002     Document Type: Article

References (20)

1. Duffield M., Rychkov G., Bretag A., Roberts M. Involvement of helices at the dimer interface in ClC-1 common gating. J. Gen. Physiol. 2003, 121:149-161.
2. Dutzler R., Campbell E.B., Cadene M., Chait B.T., MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002, 415:287-294.
3. Dutzler R., Campbell E.B., MacKinnon R. Gating the selectivity filter in ClC chloride channels. Science 2003, 300:108-112.
4. Foskett J.K. ClC and CFTR chloride channel gating. Annu. Rev. Physiol. 1998, 60:689-717.
5. - conductance cause hyperexcitability in recessive generalized myotonia (Becker). Muscle Nerve 1991, 14:762-770.
6. Ganong W.F. Review of Medical Physiology 2001, McGraw-Hill, New York, USA, p. 870. Twentieth ed.
7. George A.L., Crackower M.A., Abdalla J.A., Hudson A.J., Ebers G.C. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat. Genet. 1993, 3:305-310.
8. Jentsch T.J., Stein V., Weinreich F., Zdebik A.A. Molecular structure and physiological function of chloride channels. Physiol. Rev. 2002, 82:503-568.
9. Kaibara M., Ishihara K., Doi Y., Hayashi H., Ehara T., Taniyama K. Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes. FEBS Lett. 2002, 531:250-254.
10. Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.H., Jentsch T.J. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992, 257:797-800.
11. Lipicky R.J., Bryant S.H., Salmon J.H. Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita. J. Clin. Invest. 1971, 50:2091-2103.
12. Ludewig U., Pusch M., Jentsch T.J. Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature 1996, 383:340-343.
13. Maduke M., Miller C., Mindell J.A. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 2000, 29:411-438.
14. Pusch M., Steinmeyer K., Koch M.C., Jentsch T.J. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the ClC-1 chloride channel. Neuron 1995, 15:1455-1463.
15. Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum. Mutat. 2002, 19:423-434.
16. Rüdel R., Ricker K., Lehmann-Horn F. Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve 1988, 11:202-211.
17. Sasaki R., Ito N., Shimamura M., Murakami T., Kuzuhara S., Uchino M., Uyama E. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Muscle Nerve 2001, 24:357-363.
18. Saviane C., Conti F., Pusch M. The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J. Gen. Physiol. 1999, 113:457-468.
19. Tieleman D.P., Shrivastava I.H., Ulmschneider M.R., Sansom M.S. Proline-induced hinges in transmembrane helices: possible roles in ion channel gating. Proteins 2001, 44:63-72.
20. Yellen G. The voltage-gated potassium channels and their relatives. Nature 2002, 419:35-42.