The neuronal nicotinic acetylcholine receptor in some hereditary epilepsies

Neurochemical Research

Volumn 25, Issue 5, 2000, Pages 583-590

  Barrantes, F J ^a,b   Aztiria, E ^a   Rauschemberger, M B ^a   Vasconsuelo, A ^a  

^a Instituto de Investigaciones Bioquimicas Bahia Blanca   (Argentina)

^b UNIVERSIDAD NACIONAL DEL SUR   (Argentina)

Author keywords

Acetylcholine receptor; Brain; Brain disorders; Epilepsy; Hereditary diseases; Neuronal pathology

Indexed keywords

NICOTINIC RECEPTOR;

ARTICLE; CHANNEL GATING; EPILEPSY; GENE MUTATION; HUMAN; LIGAND BINDING; PRIORITY JOURNAL;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; EPILEPSY; HUMANS; MODELS, MOLECULAR; MUTATION; NEURONS; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, NICOTINIC; SEIZURES;

EID: 0033931344     PISSN: 03643190     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1007594516465     Document Type: Article

References (76)

1. Elmslie, F., and Gardiner, M. 1995. Genetics of the epilepsies. Curr. Opin. Neurol. 8:126-129.
2. Steinlein, O., Mulley, J., Propping, P., Wallace, R., Phillips, H., Sutherland, G., Scheffer, I., and Berkovic, S. 1995. A missense mutation in the neuronal acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics 11:201-203.
3. Steinlein, O., Magnusson, A., Stoodt, J., Bertrand, S., Weiland, S., Berkovic, S., Propping, P., Nakken, K., and Bertrand D. 1997. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal lobe epilepsy. Hum. Mol. Genet. 6:943-947.
4. Steinlein, O., Sander, T., Stoodt, J., Kretz, R., Janz, D., and Propping, P. 1997. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. Am. J. Med. Genet. 74:445-449.
5. Elmslie, F., Rees, M., Williamson, M., Kerr, M., Kjeldsen, M., Pang, K., Sundqvit, A., Friis, M., Chadwick, D., Richens, A., Covanis, A., Santos, M., Arzimanoglou, A., Panayiotopoulos, C., Curtis, D., Whitehouse, W., and Gardiner, R. 1997. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum. Mol. Genet. 6:1329-1334.
6. Rett, A. and Teubel, R. 1964. Neugeborenenkrampfe im Rahmen einer epileptisch belasteten Familie. Weiner Klin Wochenschr 76:609-613.
7. Nakken, K.O., Magnusson, A., and Steinlein, O.K. 1998. Autosomal dominant nocturnal frontal lobe epilepsy. An electroclinical and genetic description of a Norwegian family with ten affected members.Tidsskr Nor Laegefore 118:716-718.
8. Charlier, C., Singh, N., Ryan, S., Lewis, T., Reus, B., Leach, R., and Leppert, M., 1998. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet. 18:53-55.
9. Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S. F., and Mulley, J. C. 1998. Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63:1108-1116.
10. + channels causes epilepsy. Nature 396:687-690.
11. Fletcher, C.F., Lutz C.M., O'Sullivan, T.N., Shaughnessy, J.D. Jr, Hawkes, R., Frankel, W.N., Copeland, N.G., Jenkins, N.A. 1996. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87:607-617.
12. 2+ channel beta subunit gene Cchb4 associated with ataxia and seizures in the lethargic (lh) mouse. Cell 88:385-392.
13. Street, V.A., Bosma, M.M., Demas, V.P., Regan, M.R., Lin, D.D., Robinson, L.C., Agnew, W.S., and Tempel, B.L. 1997. The type 1 inositol-1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J. Neurosci. 17:635-645.
14. Mulle, C. and Changeux, J.P. 1990. A novel type of nicotinic receptor in the rat central nervous system characterized by patch-clamp techniques. J. Neurosci. 10:169-175.
15. Mulle, C., Léna, C., and Changeux, J. P. 1992. Potentiation of nicotinic receptor response by external calcium ions in rat central neurons. Neuron 8:937-945.
16. Vernino, S., Amador, M., Luetje, C.W., Patrick, J., and Dani, J. 1992. Calcium modulation and high calcium permeability of neuronal nicotinic acetylcholine receptors. Neuron 8:127-134.
17. Benwell, M., Balfour, D., and Anderson J. 1988. Evidence that tobacco smoking increases the density of(-)-[3H]nicotine binding sites in human brain. J. Neurochem. 50:1243-1247.
18. Lukas, R.J. 1998. Neuronal Nicotinic Acetylcholine Receptors. In: The nicotinic acetylcholine receptor: Current views and future trends. Pages 145-161, in Barrantes, F.J., (ed.). Neuroscience Intelligence Unit, Springer Verlag Berlin/Heidelberg and Landes Publishing Co., Georgetown, TX.
19. Kellar, K. and Wonnacott, S. 1990. Nicotinic cholinergic receptors in Alzheimer's disease. Pages 341-373, in S. Wonnacott, M.A. Russell and I.P. Stolerman, (eds.). Nicotine Psychopharmacology, Molecular, Cellular, and Behavioural Aspects, Oxford Science Publications, Oxford.
20. McGeer, P., McGeer, E., Suzuk, I. J., Dolman, C., and Nagai, T. 1984. Aging, Alzheimer's disease, and the cholinergic system of the basal forebrain. Neurology 34:741-745.
21. Nilsson, L., Adam, A., Hardy, J., Winblad, B., and Nordberg, A. 1987. Do tetrahydroaminoacridine (THA) and physostigmine restore acetylcholine release in Alzheimer brains via nicotinic receptor? J. Neurol. Trans. 70:357-368.
22. Freedman, R., Coon, H., Myles-Worsley, M., Orr-Urtreger, A., and Olincey, A. 1997. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc. Natl. Acad. Sci. USA. 94:5787-5792.
23. Fucile, S., Napolitano, M., and Mattei, E. 1997. Cholinergic stimulation of human microcytoma cell line H69. Biochem. Biophys. Res. Commun. 230:501-504.
24. Lindstrom, J. 1997. Nicotinic acetylcholine receptors in health and disease. Mol. Neurobiol. 15:193-222.
25. Barrantes, F.J. 1997. The acetylcholine receptor ligand-gated channel as a molecular target of disease and therapeutic agents. Neurochem. Res. 22:391-400.
26. Barrantes, F.J. 1998. The nicotinic acetylcholine receptor: Current views and future trends. Springer Verlag, Berlin/ Heidelberg and Landes Publishing Co., Georgetown, TX 226 pp.
27. Keyser, K., Britto, L., Schoepfer, R., Whiting, P., Cooper, J., Conroy, W., Brozozowska-Prechtl, A., Karten, H.J., and Lindstrom, J. 1993. Three subtypes of alpha bungarotoxin-sensitive nicotinic acetylcholine receptors are expressed in chick retina. J. Neurosci. 13:442-454.
28. Vernalis, A., Conroy, W., and Berg, D. 1993. Neurons assemble acetylcholine receptors with as many as three kinds of subunits while maintaining subunit segregation among receptor subtypes. Neuron 10:451-464.
29. Sine, S. and Claudio, T. 1991. Gamma and delta subunits regulate the affinity and the cooperativity of ligand binding to the acetylcholine receptor. J. Biol. Chem. 266:19369-19377.
30. Prince, R.J. and Sine, S.M. 1998. The Ligand Binding Domains of the Nicotinic Acetylcholine Receptor. Pages 31-59, in Barrantes, F.J. (ed.). The Nicotinic Acetylcholine Receptor: Current views and future trends. Springer Verlag, Berlin/Heidelberg and Landes Publishing Co., Georgetown, TX.
31. Papke, R. 1993. The kinetic properties of neuronal nicotinic receptor genetic basis of functional diversity. Prog. Neurobiol. 41:509-531.
32. Ortells, M.O., Barrantes, G.E. and Barrantes, F.J. 1998. Molecular modelling of the nicotinic acetylcholine receptor. Pages 85-108, in Barrantes, F.J., (ed.). The Nicotinic Acetylcholine Receptor: Current views and future trends. Neuroscience Intelligence Unit, Springer Verlag Berlin/Heidelberg and Landes Publishing Co., Georgetown, TX.
33. Sargent, P. 1993. The diversity of neuronal nicotinic acetylcholine receptors. Annu. Rev. Neurosci. 16:403-443.
34. Role, L. 1992. Diversity in primary structure and function of neuronal nicotinic acetylcholine receptor channels. Curr. Op. Neurobiol. 2:254-262.
35. Whiting, P., Cooper, J., and Lindstrom, J. 1987. Antibodies in sera from patients with myasthenia gravis do not bind to acetylcholine receptors from human brain. J. Neuroimmunol. 16:205-213.
36. Schoepfer, R., Whiting, P., Esch, F., Blacher, R., Shimasaki, S., and Lindstrom, J. 1988. cDna clones coding for the structural subunit of a chicken brain nicotinic acetylcholine receptor. Neuron 1:241-248.
37. Wada, E., Wada, K., Boulter, J., Deneris, E., Heinemann, S., Patrick, J., and Swanson, L.W. 1989. Distribution of alpha 2, alpha 3, alpha 4, and beta 2 neuronal nicotinic receptor subunit mRNAs in the central nervous system: a hybridization histochemical study in the rat. J. Comp. Neurol. 284:314-335.
38. Whiting, P., Schoepfer, R., Lindstrom, J., and Priestly, T. 1991. Structural and pharmacological characterisation of the major brain nicotinic acetylcholine receptor subtype stably expressed in mouse fibroblasts. Mol. Pharmacol. 40:463-472.
39. Wang, Z.Z., Hardy, S. F., and Hall, Z.W. 1996. Assembly of the nicotinic acetylcholine receptor. The first transmembrane do-mains of truncated alpha and delta subunits are required for heterodimer formation in vivo. J. Biol. Chem. 271:27575-27584.
40. Wang, Z.Z., Hardy, S.F., and Hall, Z.W. 1996. Membrane tethering enables an extracellular domain of the acetylcholine receptor alpha subunit to a heterodimeric ligand-binding site. J. Cell Biol. 135:809-817.
41. Deneris, E., Connolly, J., and Rogers, S. 1991. Pharmacological and functional diversity of neuronal nicotinic acetylcholine receptors. Trends Pharmacol. Sci. 2:34-40.
42. Fucile, S., Matter, J., Erkman, L., Ragozzino, D., Barabino, B., Grassi, F., Alema, S., Ballivet, M., and Eusebi, F. 1998. The neuronal alpha 6 subunit forms functional heteromeric acetylcholine receptors in human transfected cells. Eur. J. Neurosci. 10:172-178.
43. Couturier, S., Erkman, L., Valera, S., Rungger, D., Bertrand, S., Boulter, J., Ballivet, M., and Bertrand, D. 1990. α5, α3 and non-α3: Three clustered avian genes encoding neuronal nicotinic acetylcholine receptor-related subunits. J. Biol. Chem. 265:17560-17567.
44. Boulter, J., O'Shea-Greenfield, A., Duvoisin, R., Connolly, J., Wada, E., Jensen, A., Gardner, P., Ballivet, M., Deneris, E., McKinnon, D., Heinemann, S., and Patrick, J. 1990. α3, α5 and β4: Three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster. J. Biol. Chem. 265:4472-4482.
45. Conroy, W., Vernallis, A., and Berg D. 1992. The α5 gene product assembles with multiple acetylcholine receptor subunits to form distinctive receptor subtypes in brain. Neuron 9:1-20.
46. Ramírez-Latorre J., Yu, C., Qu, X., Perin, F., Karlin, A., and Role, L. 1996. Functional contributions of α5 subunit to neuronal acetylcholine receptor channel. Nature 380:347-351.
47. Schoepfer, R., Conroy, W.G, Whiting, P, Gore, M, and Lindstrom, J. 1990. Brain alpha-bungarotoxin binding protein cDNAs and mAbs reveal subtypes of this branch of the ligand-gated ion channel gene superfamily. Neuron 5:35-48.
48. Séguéla, P., Wadiche, J., Dineley-Miller, K., Dani, J., and Patrick, J. 1993. Molecular cloning, functional properties, and distribution of rat brain α7: a nicotinic cation channel highly permeable to calcium. J. Neurosci. 13:596-604.
49. Role, L. and Berg, D. 1996. Nicotinic receptors in the development and modulation of CNS synapses. Neuron 16:1077-1085.
50. 125l]-alpha-bungarotoxin binding in human postmortem brain. J. Comp. Neurol. 387:385-398.
51. Chen D. and Patrick J. 1997. The alpha-bungarotoxin-binding nicotinic acetylcholine receptor from brain rats contains only the alpha 7 subunit. J. Biol. Chem. 272:24024-24029.
52. Broide, R., Robertson, R., and Leslie, F. 1996. Regulation of α7 nicotinic acetylcholine receptors in the developing rat somatosensory cortex by thalamocortical afferents. J. Neurosci. 16:2956-2971.
53. Pugh, P. and Berg, D. 1994. Neuronal acetylcholine receptors that bind a-bungarotoxin mediate neurite retraction in a calcium dependent manner. J. Neurosci. 14:889-896.
54. McGehee, D., Heath, M., Gelber, S., Devay, P., and Role, L. 1995. Nicotine enhancement of fast excitatory synaptic transmission in CNS by presynbaptic receptors. Science 269: 1692-1696.
55. LeNovère, N. and Changeux J. 1995. Molecular evolution of the nicotinic acetylcholine receptor, an example of a multigene family in excitable cells. J. Mol. Evol. 40:155-172.
56. Ortells, M.O. 1998. Evolution of the AChR and other ligand-gated ion channels. Pages 11-30, in Barrantes, F.J., (ed.). The Nicotinic Acetylcholine Receptor: Current views and future trends. Springer Verlag Berlin/Heidelberg and Landes Publishing Co., Georgetown, TX.
57. Couturier, S., Bertrand, D., Matter, J.M., Hernandez, M.C., Bertrand, S., Millar N., Valera, S., Barkas, T., and Ballivet M. 1990b. A neuronal nicotinic acetylcholine receptor subunit (α7) is developmentally regulated and forms a homo-oligomeric channel blocked by α-BTX. Neuron 5:847-856.
58. Gerzanich, V., Anand, R., and Lindstrom, J. 1994. Homomers of α8 and α7 subunits of nicotinic receptors exhibit similar channel but contrasting binding site properties. Mol. Pharm. 45:212-220.
59. Gotti, C., Moretti, M., Longhi, R., Briscini, L., Balestra, B., and Clementi F. 1994. Expression of alpha-bungarotoxin receptor subtypes in chick central nervous system during development. J. Recept. Res. 14:335-346.
60. Elgoyhen, A., Johnson, D., Boulter, J., Vetter, D., and Heinemann, S. 1994. α9: an acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells. Cell 79:705-715.
61. Phillips, H.A., Scheffer, I. E., Berkovic, S.F., Hollway, G.E., Sutherland, G.R., and Mulley, J.C. 1995. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat. Genet. 10:117-118.
62. Rett, A. and Teubel, R., 1964. Neugeborenenkrampfe im Rahmen einer epileptisch belasteten Familie. Wiener Klin Wochenschr 76:609-613.
63. Leppert, M., Anderson, V.E., Quattlebaum, T., Stauffer, D., O'Connell, P., Nakamura, Y., Lalouel, J. M., and White, R. 1989. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337:647-648.
64. Saenz, A., Galan, J., Caloustian, C., Lorenzo, F., Marquez, C., Rodriguez, N., Jimenez, M.D., Poza, J.J., Cobo, A.M., Grid D., Prud'homme J.F. and Lopez de Munain, A. 1999. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch. Neurol. 56, 1004-1009.
65. Iwata, H., Hirose, S., Akiyoshi, H., Kaneko, S., and Mitsudome, A. 1999. A novel intragenetic Pvull marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4). Hum. Mutat. 14:93.
66. Steinlein, O., Smigrodzki, R., Lindstrom, J., Anand, R., Kohler, M., Tocharoentanaphol, C., and Vogel, F. 1994. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q 13.2-q13.3. Genomics 22:493-495.
67. Ortells, M. and Lunt, G. 1995. Evolutionary history of the ligand-gated ion-channel superfamily of receptors. Trends in Neurosci. 18:121-127.
68. Bertrand, D., Galzi, J., Devillers-Thiery, A., Bertrand S., and Changeux, J.-P. 1993. Stratification of the channel domain in neurotransmitter receptors. Curr. Opin. Cell Biol. 5:688-693.
69. Weiland, S., Witzemann, V., Villarroel, A., Propping, P., and Steinlein, O. 1996. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS-Lett. 398:91-96.
70. Figl, A., Viseshakul, N., Forsayeth, J. and Cohen, B. 1997. A mutation associated with epilepsy enhances desensitization of the α4β2 neuronal nicotinic receptor. Biophys. J. 72:A150.
71. Forman, S.A., Yellen, G., and Thiele, E.A. 1996. Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation. Nature Genet. 13:396-397.
72. Steriade, M., McCormick, D., and Sejnowski, T. 1993. Thalamocortical oscillations in the sleeping and aroused brain. Science 262:679-685.
73. 2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J. Neurosci. 17:9035-9047.
74. Phillips, H. A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J., Stephenson, J.B., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., and Mulley, J.C. 1998. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63:1108-1116.
75. Berkovic, S. Curtis, L. and Bertrand, D. 1998. Neuronal nicotinic receptor channel dysfunction in a human epilepsy syndrome. Pages 287-306, in S. P. Arneric and J. D. Brioni, (eds.) Neuronal Nicotinic Receptors: Pharmacology and therapeutic opportunities.
76. Chung W.K., Power-Kehoe, L., Chua, M., and Leibel, R.L. 1996. Mapping of the Ob receptor to 1p in a region of nonconserved gene order from mouse and rat to human. Genome Res 16:431-438.