New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

Human Molecular Genetics

Volumn 5, Issue 9, 1996, Pages 1217-1227

  Engel, Andrew G ^a   Ohno, Kinji ^a   Milone, Margherita ^a   Wang, Hai Long ^a   Nakano, Satoshi ^a   Bouzat, Cecilia ^a   Pruitt II, J Ned ^a   Hutchinson, David O ^a   Brengman, Joan M ^a   Bren, Nina ^a   Sieb, Joern P ^a   Sine, Steven M ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EATON LAMBERT SYNDROME; ENDPLATE POTENTIAL; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MEMBRANE CHANNEL; PRIORITY JOURNAL; RECEPTOR AFFINITY; RECEPTOR DOWN REGULATION; RECEPTOR GENE;

ADOLESCENT; AMINO ACID SEQUENCE; GENETIC HETEROGENEITY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYASTHENIA GRAVIS; PATCH-CLAMP TECHNIQUES; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CHOLINERGIC; SYNDROME;

EID: 10144229353     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.9.1217     Document Type: Article

References (44)

1. Patrick, J. and Lindstrom, J.M. (1973) Autoimmune response to acetylcholine receptor. Science, 180, 871-872.
2. Engel, A.G., Lambert, E.H. and Gomez, M.R. (1977) A new myasthenic syndrome with end plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann. Neurol., 1, 315-330.
3. Hutchinson, D.O., Walls, T.J., Nakano, S., Camp, S., Taylor, P., Harper, C.M., Groover, R.V., Peterson, H.A., Jamieson, D.G. and Engel, A.G. (1993) Congenital endplate acetylcholinesterase deficiency. Brain, 116, 633-653.
4. Walls, T.J., Engel, A.G., Nagel, A.S., Harper, C.M. and Trastek, V.F. (1993) Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. Ann. NY Acad. Sci., 681, 461-468.
5. Mora, M., Lambert, E.H. and Engel, A.G. (1987) Synaptic vesicle abnormality in familial infantile myasthenia. Neurology, 37, 206-214.
6. Engel, A.G., Lambert, E.H., Mulder, D.M., Torres, C.F., Sahashi, K., Bertorini, T.E. and Whitaker, J.N. (1982) A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann. Neurol., 11, 553-569.
7. Engel, A.G., Hutchinson, D.O., Nakano, S., Murphy, L., Griggs, R.C., Gu, Y., Hall, Z.W. and Lindstrom, J. (1993) Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann. NY Acad. Sci., 681, 496-508.
8. Uchitel, O., Engel, A.G., Walls, T.J., Nagel, A., Atassi, Z.M. and Bril, V. (1993) Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve, 16, 1293-1301.
9. Engel, A.G. (1994) Myasthenic syndromes. In Engel, A.G. and Franzini-Armstrong, C. (eds) Myology. 2nd Edn. McGraw-Hill, New York, pp. 1798-1835.
10. Ohno, K., Hutchinson, D.O., Milone, M., Brengman, J.M., Bouzat, C., Sine, S.M. and Engel, A.G. (1995) Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ∈ subunit. Proc. Natl Acad. Sci. USA, 92, 758-762.
11. Sine, S.M., Ohno, K., Bouzat, C., Auerbach, A., Milone, M., Pruitt, J.N. and Engel, A.G. (1995) Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron, 15, 229-239.
12. Ohno, K., Wang, H.-L., Milone, M., Bren, N., Brengman, J.M., Nakano, S., Quiram, P., Pruitt, J.N., Sine, S.M. and Engel, A.G. (1996) Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron, 17.
13. Kerr, J.F.R., Gobé, G.C., Winterford, C.M. and Harmon, B.V. (1995) Anatomical methods in cell death. Methods Cell Biol., 46, 1-27.
14. Milone, M., Hutchinson, D.O. and Engel, A.G. (1994) Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve, 17, 1364-1369.
15. Sakmann, B., Patlak, J. and Neher, E. (1980) Single acetylcholine-activated channels show burst kinetics in the presence of desensitizing concentrations of agonist. Nature, 286, 71-73.
16. Mishina, M., Takai, T., Imoto, K., Noda, M., Takahashi, T., Numa, S., Methfessel, C. and Sakmann, B. (1986) Molecular distinction between fetal and adult forms of muscle acetylcholine receptor. Nature, 321, 406-411.
17. Gu, Y. and Hall, Z.W. (1988) Immunological evidence for a change in subunits of the acetylcholine receptor in developing and denervated rat muscle. Neuron, 1, 117-125.
18. Gomez, C.M. and Gammack, J.T. (1995) A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology, 45, 982-985.
19. Unwin, N. (1993) Nicotinic acetylcholine receptor at 9 Å resolution. J. Mol. Boil., 229, 1101-1124.
20. Ohno, K., Hutchinson, D.O., Milone, M., Nakano, S., Sieb, J.P., Brengman, J.M. and Engel, A.G. (1995) Molecular genetic basis of a slow channel syndrome. Muscle Nerve, 18, 463. (Abstract)
21. Gelehrter, T.D. and Collins, F.S. (1990) Population genetics and multifactorial inheritance. In Principles of Medical Genetics. Williams and Wilkins, Baltimore, pp. 49-65.
22. Sine, S.M. (1988) Functional properties of human skeletal muscle acetylcholine receptors expressed by TE671 cell line. J. Biol. Chem., 263, 18052-18062.
23. Akabas, M.H., Kaufmann, C., Archdeacon, P. and Karlin, A. (1994) Identification of acetylcholine receptor channel-lining residues in the entire M2 segment of the alpha subunit. Neuron, 13, 919-927.
24. Lo, D.C., Pinkham, J.L. and Stevens, C.F. (1991) Role of a key cysteine residue in the gating of the acetylcholine receptor. Neuron, 6, 31-40.
25. Akabas, M.H. and Karlin, A. (1995) Identification of acetylcholine receptor channel-lining residues in the M1 segment of the α-subunit. Biochemistry., 34, 12496-12500.
26. Leonard, J.P. and Salpeter, M.M. (1979) Agonist-induced myopathy at the neuromuscular junction is mediated by calcium. J. Cell. Biol., 82, 811-819.
27. Maselli, R.A. and Leung, C. (1993) Analysis of anticholinesterase-induced neuromuscular transmission failure. Muscle Nerve, 16, 548-553.
28. Magleby, K.L. and Pallotta, B.S. (1981) A study of desensitization of acetylcholine receptors using nerve-released transmitter in the frog. J. Physiol. (Lond.), 316, 225-250.
29. Engel, A.G. (1994) Quantitative morphological studies of muscle. In Engel, A.G. and Franzini-Armstrong, C. (eds) Myology: Basic and Clinical. 2nd Ed. McGraw-Hill, New York, pp. 1018-1045.
30. Engel, A.G., Lindstrom, J.M., Lambert, E.H. and Lennon, V.A. (1977) Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model. Neurology, 27, 307-315.
31. Engel, A.G., Nagel, A., Walls, T.J., Harper, C.M. and Waisburg, H.A. (1993) Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor. Muscle Nerve, 16, 1284-1292.
32. Colquhoun, D. and Sakmann, B. (1985) Fast events in single channel currents activated by acetylcholine and its analogues at the frog muscle end-plate. J. Physiol. (Lond), 369, 501-557.
33. Sigworth, F.J. and Sine, S.M. (1987) Data transformation for improved display and fitting of single-channel dwell time histograms. Biophys. J., 52, 1047-1054.
34. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. 2nd Edn. Cold Spring Harbor Laboratory Press, Plainview, NY.
35. Noda, M., Furutani, Y., Takahashi, H., Toyosato, M., Tanabe, T., Shimizu, S., Kikyotani, S., Kayano, T., Hirose, T., Inayama, S. and Numa, S. (1983) Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. Nature, 305, 818-823.
36. Beeson, D., Brydson, M. and Newsom-Davis, J. (1989) Nucleotide sequence of human muscle acetylcholine receptor beta subunit. Nucleic Acids Res., 17, 4391.
37. Luther, M.A., Schoepfer, R., Whiting, P., Casey, B., Blatt, Y., Montal, M.S., Montal, M. and Lindstrom, J. (1989) A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. J. Neurosci., 9, 1082-1096.
38. Beeson, D., Brydson, M., Betty, M., Jeremiah, S., Povey, S., Vincent, A. and Newsom-Davis, J. (1993) Primary structure of the human muscle acetylcholine receptor: cDNA cloning of the gamma and epsilon subunits. Eur. J. Biochem., 215, 229-238.
39. Hongyo, T., Buzard, G.S., Calvert, R.J. and Weghorst, C.M. (1993) 'Cold SSCP': a simple, rapid and non-radioactive method for the optimized single-strand conformation polymorphism analyses. Nucleic Acids Res., 21, 3637-3642.
40. Sine, S.M. (1993) Molecular dissection of subunit interfaces in the acetylcholine receptor: Identification of residues that determine curare selectivity. Proc. Natl Acad. Sci. USA., 90, 9436-9440.
41. Bouzat, C., Bren, N. and Sine, S.M. (1994) Structural basis of different gating kinetics of fetal and adult acetylcholine receptors. Neuron, 13, 1395-1402.
42. Sine, S.M. and Taylor, P. (1979) Functional consequences of agonist mediated state transitions in the cholinergic receptor. Studies in cultured muscle cells. J. Biol. Chem., 254, 3315-3325.
43. Unwin, N. (1993) Neurotransmitter action: Opening of ligand-gated ion channels. Cell, 72(Suppl.), 31-41.
44. Beaudet, A.L. and Tsui, L.-C. (1993) A suggested nomenclature for designating mutations. Hum. Mut., 2, 245-248.