Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1

American Journal of Physiology - Cell Physiology

Volumn 292, Issue 2, 2007, Pages

  Imbrici, Paola ^a   D'Adamo, Maria Cristina ^a   Cusimano, Antonella ^a   Pessia, Mauro ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

Author keywords

Episodic ataxia type 1; Shaker channel gating; Xenopus laevis cocytes

Indexed keywords

ION CHANNEL; METAL ION; POTASSIUM CHANNEL KV1.1; POTASSIUM CHANNEL KV1.4; POTASSIUM CHANNEL KVBETA1.1; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; ZINC;

ANALYTICAL PARAMETERS; ANIMAL CELL; ARTICLE; ATAXIA; BINDING AFFINITY; BINDING SITE; CONTROLLED STUDY; DISSOCIATION CONSTANT; EQUILIBRIUM CONSTANT; FEMALE; GENE MUTATION; HUMAN; ION CURRENT; MEMBRANE VESICLE; MODULATION; MUTATION; NONHUMAN; PRESYNAPTIC MEMBRANE; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SIGNAL TRANSDUCTION; WILD TYPE;

ANIMALS; CALCIUM; CATIONS, DIVALENT; FEMALE; HUMANS; ION CHANNEL GATING; KV1.1 POTASSIUM CHANNEL; KV1.4 POTASSIUM CHANNEL; MUTATION; OOCYTES; PRESYNAPTIC TERMINALS; SPINOCEREBELLAR DEGENERATIONS; XENOPUS LAEVIS; ZINC;

XENOPUS LAEVIS;

EID: 33847080009     PISSN: 03636143     EISSN: 15221563     Source Type: Journal    
DOI: 10.1152/ajpcell.00259.2006     Document Type: Article

References (70)

1. Adelman JP, Bond CT, Pessia M, Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15: 1449-1454, 1995.
2. Ashcroft MF. Ion Channels and Disease. San Diego, CA: Academic, 1999.
3. Ashizawa T, Butler IJ, Harati Y, Roongta SM. A dominantly inherited syndrome with continuous motor neuron discharges. Ann Neurol 13: 285-290, 1983.
4. 2+ from brain tissue during activity. Nature 308: 734-736, 1984.
5. Babila T, Moscucci A, Wang H, Weaver FE, Koren G. Assembly of mammalian voltage-gated potassium channels: evidence for an important role of the first transmembrane segment. Neuron 12: 615-626, 1994.
6. Bancila V, Nikonenko I, Dunant Y, Bloc A. Zinc inhibits glutamate release via activation of pre-synaptic K channels and reduces ischaemic damage in rat hippocampus. J Neurochem 90: 1243-1250, 2004.
7. Boland LM, Price DL, Jackson KA. Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel. Neuroscience 91: 1557-1564, 1999.
8. Bouchard P, Roberge C, van Gelder NM, Barbeau A. Familial periodic ataxia responsive to acetazolamide. Can J Neurol Sci 11: 550-553, 1984.
9. Bretschneider F, Wrisch A, Lehmann-Horn F, Grissmer S. Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1). Eur J Neurosci 11: 2403-2412, 1999.
10. Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 4: 1671-1672, 1995.
11. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8: 136-140, 1994.
12. Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113: 1361-1382, 1990.
13. Connor JA, Stevens CF. Prediction of repetitive firing behaviour from voltage clamp data on an isolated neurone soma. J Physiol 213: 31-53, 1971.
14. 2+. FEBS Lett 576: 237-244, 2004.
15. + channel function. FASEB J 13: 1335-1345, 1999.
16. D'Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J 17: 1200-1207, 1998.
17. + conductance in hippocampus. Nature 389: 286-289, 1997.
18. De Biasi M, Wang Z, Accili E, Wible B, Fedida D. Open channel block of human heart hKv1.5 by the β-subunit hKvβ12. Am J Physiol Heart Circ Physiol 272: H2932-H2941, 1997.
19. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 48: 647-656, 2000.
20. Frederickson CJ, Koh JY, Bush AI. The neurobiology of zinc in health and disease. Nat Rev Neurosci 6: 449-462, 2005.
21. Frederickson CJ, Suh SW, Silva D, Frederickson CJ, Thompsom RB. Importance of zinc in the central nervous system: the zinc-containing neuron. J Nutr 130: 1471S-1483S, 2000.
22. Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord 1: 239-253, 1986.
23. + channels in hippocampal mossy fiber boutons. Neuron 28: 927-939, 2000.
24. 2+. Mol Pharmacol 43: 482-486, 1993.
25. 2+: an endogenous modulator of ligandand voltage-gated ion channels. Neuropharmacology 33: 935-952, 1994.
26. Heinemann SH, Rettig J, Graack HR, Pongs O. Functional characterization of Kv channel β-subunits from rat brain. J Physiol 493: 625-633, 1996.
27. Herson PS, Virk M, Rustay NR, Bond CT, Crabbe JC, Adelman JP, Maylie J. A mouse model of episodic ataxia type-1. Nat Neurosci 6: 378-383, 2003.
28. + channel regulation of signal propagation in dendrites of hippocampal pyramidal neurons. Nature 387: 869-875, 1997.
29. Horton RM, Hunt HD, Ho SN, Pullen JK, Pease LR. Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension. Gene 77: 61-68, 1989.
30. Howell GA, Welch MG, Frederickson CJ. Stimulation-induced uptake and release of zinc in hippocampal slices. Nature 308: 736-738, 1984.
31. Imbrici P, Cusimano A, D'Adamo MC, De Curtis A, Pessia M. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. Pflügers Arch 446: 373-379, 2003.
32. 2+. J Physiol 541: 9-24, 2002.
33. Kullmann DM, Rea R, Spauschus A, Jouvenceau A. The inherited episodic ataxias: how well do we understand the disease mechanisms? Neuroscientist 7: 80-88, 2001.
34. +: evidence for transmembrane communication. Am J Physiol Heart Circ Physiol 284: H71-H80, 2003.
35. 2+ from presynaptic terminals into postsynaptic hippocampal neurons after physiological stimulation. J Neurophysiol 86: 2597-2604, 2001.
36. Litt M, Kramer P, Browne D, Gancher S, Brunt ER, Root D, Phromchotikul T, Dubay CJ, Nutt J. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet 55: 702-709, 1994.
37. + channel. Science 309: 897-903, 2005.
38. Long SB, Campbell EB, Mackinnon R. Voltage sensor of Kv1.2: structural basis of electromechanical coupling. Science 309: 903-908, 2005.
39. Majumder K, De Biasi M, Wang Z, Wible BA. Molecular cloning and functional expression of a novel potassium channel β-subunit from human atrium. FEBS Lett 361: 13-16, 1995.
40. Mathie A, Sutton GL, Clarke CE, Veale EL. Zinc and copper: pharmacological probes and endogenous modulators of neuronal excitability. Pharmacol Ther 111: 567-583, 2006.
41. Mathur R, Zhou J, Babila T, Koren G. Ile-177 and Ser-180 in the S1 segment are critically important in Kv1.1 channel function. J Biol Chem 274: 11487-11493, 1999.
42. Maylie B, Bissonnette E, Virk M, Adelman JP, Maylie JG. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvβ1-induced N-type inactivation. J Neurosci 22: 4786-4793, 2002.
43. 2 gene product. FEBS Lett 370: 32-36, 1995.
44. + channel α- and β-subunits in rat hippocampal formation. J Neurosci 21: 5973-5983, 2001.
45. Quinta-Ferreira ME, Matias CM. Tetanically released zinc inhibits hippocampal mossy fiber calcium, zinc and synaptic responses. Brain Res 1047: 1-9, 2005. [Corrigenda. Brain Res 1063: 102-104, 2005.]
46. + channel subunit dysfunction in inherited mutations of KCNA1. J Physiol 538: 5-23, 2002.
47. + channels altered by presence of beta-subunit. Nature 369: 289-294, 1994.
48. + channel complexes. J Neurosci 17: 8246-8258, 1997.
49. 2+/ calmodulin-dependent protein kinase. J Neurosci 15: 3379-3391, 1997.
50. Ruppersberg JP, Schroter KH, Sakmann B, Stocker M, Sewing S, Pongs O. Heteromultimeric channels formed by rat brain potassium-channel proteins. Nature 345: 535-537, 1990.
51. Schulte U, Thumfart JO, Klocker N, Sailer CA, Bildl W, Biniossek M, Dehn D, Deller T, Eble S, Abbass K, Wangler T, Knaus HG, Fakler B. The epilepsy-linked lgi1 protein assembles into presynaptic kv1 channels and inhibits inactivation by kvβ1. Neuron 49: 697-706, 2006.
52. + channel assembly. Neuron 11: 67-76, 1993.
53. + channel proteins in rat central neurons. Neuron 9: 271-284, 1992.
54. 2+ ions: modulators of excitatory and inhibitory synaptic activity. Neuroscientist 10: 432-441, 2004.
55. Spauschus A, Eunson L, Hanna MG, Kullmann DM. Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy. Ann NY Acad Sci 868: 442-446, 1999.
56. Takeda A. Movement of zinc and its functional significance in the brain. Brain Res Brain Res Rev 34: 137-148, 2000.
57. Takeda A. Zinc homeostasis and functions of zinc in the brain. Biometals 14: 343-351, 2001.
58. Thompson RB, Whetsell WOJR, Maliwal BP, Fierke CA, Frederickson CJ. Fluorescence microscopy of stimulated Zn(II) release from organotypic cultures of mammalian hippocampus using a carbonic anhydrase-based biosensor system. J Neurosci Methods 96: 35-45, 2000.
59. Trimmer JS, Rhodes KJ. Localization of voltage-gated ion channels in mammalian brain. Annu Rev Physiol 66: 477-519, 2004.
60. Van Dyke DH, Griggs RC, Murphy MJ, Goldstein MN. Hereditary myokymia and periodic ataxia. J Neurol Sci 25: 109-118, 1975.
61. Vogt K, Mellor J, Tong G, Nicoll R. The actions of synaptically released zinc at hippocampal mossy fiber synapses. Neuron 26: 187-196, 2000.
62. Wang H, Kunkel DD, Schwartzkroin PA, Tempel BL. Localization of Kv1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. J Neurosci 14: 4588-4599, 1994.
63. Wang Z, Danscher G, Kim YK, Dahlstrom A, Mook JS. Inhibitory zinc-enriched terminals in the mouse cerebellum: double-immunohistochemistry for zinc transporter 3 and glutamate decarboxylase. Neurosci Lett 321: 37-40, 2002.
64. Xie XM, Smart TG. A physiological role for endogenous zinc in rat hippocampal synaptic neurotransmission. Nature 349: 521-524, 1991.
65. Zerr P, Adelman JP, Maylie J. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci 18: 2842-2848, 1998.
66. Zerr P, Adelman JP, Maylie J. Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS Lett 43: 461-464, 1998.
67. 2+ in human Kv1.5 potassium channels. J Physiol 532: 349-358, 2001.
68. Zhang S, Kehl SJ, Fedida D. Modulation of Kv1.5 potassium channel gating by extracellular zinc. Biophys J 81: 125-136, 2001.
69. Zhou M, Morais-Cabral JH, Mann S, MacKinnon R. Potassium channel receptor site for the inactivation gate and quaternary amine inhibitors. Nature 411: 657-661, 2001.
70. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JP, Kullmann DM, Hanna MG. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122: 817-825, 1999.