Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita |
Ha, Kotdaji
(Department of Physiology, Seoul National University, College of Medicine)
Kim, Sung-Young (Department of Physiology, Seoul National University, College of Medicine) Hong, Chansik (Department of Physiology, Seoul National University, College of Medicine) Myeong, Jongyun (Department of Physiology, Seoul National University, College of Medicine) Shin, Jin-Hong (Department of Neurology, Research Institute for Convergence of Biomedical Research and Technology, Pusan University Yangsan Hospital) Kim, Dae-Seong (Department of Neurology, Research Institute for Convergence of Biomedical Research and Technology, Pusan University Yangsan Hospital) Jeon, Ju-Hong (Department of Physiology, Seoul National University, College of Medicine) So, Insuk (Department of Physiology, Seoul National University, College of Medicine) |
1 | Accardi, A., and Pusch, M. (2000). Fast and slow gating relaxations in the muscle chloride channel CLC-1. J. Gen. Physiol. 116, 433-444. DOI ScienceOn |
2 | Aromataris, E.C., Rychkov, G.Y., Bennetts, B., Hughes, B.P., Bretag, A.H., and Roberts, M.L. (2001). Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations. Mol. Pharmacol. 60, 200-208. DOI |
3 | Bryant, S.H., and Morales-Aguilera, A. (1971). Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J. Physiol. 219, 367-383. DOI |
4 | Colding-Jorgensen, E. (2002). Phenotypic variability in myotonia congenita. Muscle Nerve 32, 19-34. |
5 | Dulhunty, A.F. (1979). Distribution of potassium and chloride permeability over the surface and T-tubule membranes of mammalian skeletal muscle. J. Membr. Biol. 45, 293-310. DOI |
6 | Fahlke, C., Rosenbohm, A., Mitrovic, N., George, A.L Jr., and Rudel, R. (1996). Mechanism of voltage-dependent gating in skeletal muscle chloride channels. Biophys. J. 71, 695-706. DOI ScienceOn |
7 | Dutka, T.L., Murphy, R.M., Stephenson, D.G., and Lamb, G.D. (2000). Chloride conductance in the transverse tubular system of rat skeletal muscle fibres: importance inexcitation-contraction coupling and fatigue. J. Physiol. 586, 875-887. |
8 | Dutzler, R. (2006). The clc family of chloride channels and transporters. Curr. Opin. Struct. Biol. 4, 439-446. |
9 | Dutzler, R., Campbell, E.B., Cadene, M., Chait, B.T., and MacKinnon, R. (2002). X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415, 287-294. DOI ScienceOn |
10 | Fahlke, C., Beck, C.L., and George, A.L. Jr. (1997a). A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc. Natl. Acad. Sci. USA 94, 2729-2734. DOI |
11 | Fahlke, C., Knittle, T., Gurnett, C.A., Campbell, K.P., and George, A.L Jr. (1997b). Subunit stoichiometry of human muscle chloride channels. J. Gen. Physiol. 109, 93-104. DOI |
12 | Fahlke, C., Desai, R.R., Gillani, N., and George, A.L. Jr. (2001). Residues lining the inner pore vestibule of human muscle chloride channels. J. Biol. Chem. 276, 1759-1765. DOI |
13 | Fialho, D., Schorge, S., and Pucovska., U., Davies, N.P., Labrum, R., Haworth, A., Stanley, E., Sud, R., Wakeling, W., Davis, M.B., et al. (2007). Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 130, 3265-3274. DOI ScienceOn |
14 | George, A.L Jr., Crackower, M.A., Abdalla, J.A., Hudson, A.J., and Ebers, G.C. (1993). Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat. Genet. 3, 305-310. DOI ScienceOn |
15 | Jentsch, T.J., Lorenz, C., Pusch, M., and Steinmeyer, K. (2010). Myotonias due to CLC-1 chloride channel mutations. Soc. Gen. Physiol. 50, 149-159. |
16 | Grunnet, M., Jespersen, T., Colding-Jorgensen, E., Schwartz, M., Klaerke, D.A., Vissing, J., Olesen, S.P., and Duno, M. (2003). Characterization of two new dominant ClC-1 channel mutations associated with myotonia. Muscle Nerve. 28, 722-732. DOI ScienceOn |
17 | Lossin, C., and George, A.L Jr. (2008). Myotonia congenita. Adv. Genet. 63, 25-55. DOI ScienceOn |
18 | Hsiao, K.M., Huang, R.Y., Tang, P.H., and Lin, M.J. (2010). Functional study of CLC-1 mutants expressed in Xenopus oocytes reveals that a C-terminal region Thr891-Ser892-Thr893 is responsible for the effects of protein kinase C activator. Cell. Physiol. Biochem. 25, 687-694. DOI ScienceOn |
19 | Koch, M.C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K.H., and Jentsch, T.J. (1992). The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257, 797-800. DOI |
20 | Koch, M.C., Ricker, K., Otto, M., Wolf, F., Zoll, B., Lorenz, C., Steinmeyer, K., and Jentsch, T.J. (1993). Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). J. Med. Genet. 30, 914-917. DOI ScienceOn |
21 | Mailander, V., Heine, R., Deymeer, F., and Lehmann-Horn, F. (1996). Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am. J. Hum. Genet. 58, 317-324. |
22 | Markovic, S., and Dutzler, R. (2007). The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface. Structure 15, 715-725. DOI ScienceOn |
23 | Meyer, S., and Dutzler, R. (2006). Crystal structure of the cytoplasmic domain of the chloride channel ClC-0. Structure 14, 299-307. DOI ScienceOn |
24 | Moon, I.S., Kim, H.S., Shin, J.H., Park, Y.E., Park, K.H., Shin, Y.B., Bae, J.S., Choi, Y.C., and Kim, D.S. (2009). Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. J. Korean Med. Sci. 24, 1038-44. DOI ScienceOn |
25 | Wu, F.F., Ryan, A., Devaney, J., Warnstedt, M., Korade-Mirnics, Z., Poser, B., Escriva, M.J., Pegoraro, E., Yee, A.S., Felice, K.J., et al. (2002). Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 125, 2392-2407. DOI ScienceOn |
26 | Matulef, K., Howery, A.E., Kobertz, W.R., Bois, J.D., and Maduke, M. (2008). Discovery of potent CLC chloride channel inhibitors. ACS Chem. Biol. 3, 419-428. DOI ScienceOn |
27 | Richman, D.P., Yu, Y., Lee, T.T., Tseng, P.Y., Yu, W.P., Maselli, R.A., Tang, C.Y., and Chen, T.Y. (2012). Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel, CLC-1 Neuromol. Med. 14, 328-337. DOI ScienceOn |
28 | Tang, C.Y., and Chen, T.Y. (2011). Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia. J. Biomed. Biotechnol. 2011, 685328. |
29 | Heiny, J.A., Valle, J.R., and Bryant, S.H. (1990). Optical evidence for a chloride conductance in the T-system of frog skeletal muscle. Pflugers Arch. 416, 288-295. DOI ScienceOn |