Molecular basis of congenital myasthenic syndromes: Mutations in the acetylcholine receptor

Neuroscientist

Volumn 4, Issue 3, 1998, Pages 185-194

  Engel, Andrew G ^a   Ohno, Kinji ^a   Wang, Hai Long ^a   Milone, Margherita ^a   Sine, Steven M ^a  

^a MAYO CLINIC   (United States)

Author keywords

Acetylcholine receptor; Congenital myasthenic syndromes; Mutation analysis; Neuromuscular junction; Patch clamp analysis

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ALLELE; CHANNEL GATING; EATON LAMBERT SYNDROME; ENZYME DEFICIENCY; FATIGUE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MUSCLE WEAKNESS; NEUROMUSCULAR SYNAPSE; PATCH CLAMP; RECEPTOR AFFINITY; RECEPTOR GENE; REVIEW;

EID: 0031837418     PISSN: 10738584     EISSN: None     Source Type: Journal    
DOI: 10.1177/107385849800400314     Document Type: Review

References (55)

1. Engel AG. Myasthenie syndromes. In: Engel AG, Franzini-Armstrong C, editors. Myology: basic and clinical. 2nd ed. New York: McGraw-Hill, 1994. p. 1798-1835.
2. Mora M, Lambert EH, Engel AG. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987;37:206-214.
3. Walls TJ, Engel AG, Nagel AS, Harper CM, Trastek VF. Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. Ann N Y Acad Sci 1993; 681:461-468.
4. Engel AG, Lambert EH, Gomez MR. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1977;1: 315-330.
5. Hutchinson DO, Walls TJ, Nakano S, et al. Congenital endplate acetylcholinesterase deficiency. Brain 1993;116:633-653.
6. Engel AG, Hutchinson DO, Nakano S, et al. Myasthenie syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann N Y Acad Sci 1993;681:496-508.
7. Vincent A, Newsom-Davis J, Wray D, et al. Clinical and experimental observations in patients with congenital myasthenic syndromes. Ann N Y Acad Sci 1993;681:451-460.
8. Engel AG, Lambert EH, Mulder DM, et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 1982; 11:553-569.
9. Noda M, Furutani Y, Takahashi H, et al. Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. Nature 1983; 305:818-823.
10. Beeson D, Brydson M, Newsom-Davis J. Nucleotide sequence of human muscle acetylcholine receptor beta subunit. Nucleic Acids Res 1989;17:4391.
11. Luther MA, Schoepfer R, Whiting P, et al. A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. J Neurosci 1989;9:1082-1096.
12. Beeson D, Brydson M, Betty M, et al. Primary structure of the human muscle acetylcholine receptor: cDNA cloning of the gamma and epsilon subunits. Eur J Biochem 1993;215:229-238.
13. Milone M, Hutchinson DO, Engel AG. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve 1994;17:1364-1369.
14. Engel AG. The investigation of congenital myasthenic syndromes. Ann N Y Acad Sci 1993;681:425-434.
15. Ohno K, Hutchinson DO, Milone M, et al. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit. Proc Natl Acad Sci U S A 1995;92:758-762.
16. Sine SM, Ohno K, Bouzat C, et al. Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995;15:229-239.
17. Engel AG, Ohno K, Milone M, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996; 5:1217-1227.
18. Milone M, Wang H-L, Ohno K, et al. Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci 1997;17:5651-5665.
19. Ohno K, Quiram P, Milone M, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997;6: 753-766.
20. Gomez CM, Maselli R, Gammack J, et al. A beta-subunit mutation in the acetylcholine receptor gate causes severe slow-channel syndrome. Ann Neurol 1996;39:712-723.
21. Croxen R, Newland C, Beeson D, et al. Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patients with the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1997;6:767-773.
22. Ohno K, Wang H-L, Milone M, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit. Neuron 1996;17: 157-170.
23. Ohno K, Engel AG, Milone M, et al. A congenital myasthenic syndrome with severe acetylcholine receptor deficiency caused by heteroallelic frameshifting mutations in the epsilon subunit (abstract). Neurology 1995;45(4 Suppl):A283.
24. Milone M, Ohno K, Pruitt JN, Brengman JM, Sine SM, Engel AG. Congenital myasthenic syndrome due to frameshifting acetylcholine receptor epsilon subunit mutation (abstract). Soc Neurosci Abstr 1996;22:1942.
25. Ohno K, Fukudome T, Nakano S, et al. Mutational analysis in a congenital myasthenic syndrome reveals a novel acetylcholine receptor epsilon subunit mutation (abstract). Soc Neurosci Abstr 1996;22:234.
26. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RG. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit. Ann Neurol 1996;40:810-817.
27. Milone M, Ohno K, Fukudome T, Shen X-M, Brengman JM, Engel AG. A null mutation and inframe duplication mutation of the acetylcholine receptor ε subunit gene in a congenital myasthenic syndrome. Ann N Y Acad Sci 1998, in press.
28. Ohno K, Anlar B, Özdirim E, Brengman JM, DeBleecker JL, Engel AG. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998; in press.
29. Croxen R, Beeson D, Vincent A, et al. Congenital myasthenic syndrome with a single nucleotide deletion at the intron/exon boundary in exon 12 of the gene encoding the acetylcholine receptor ε subunit (abstract). Ann Neurol 1996;40:513.
30. Sandrock AW, Dryer SE, Rosen KM, et al. Maintenance of acetylcholine receptor number by neuregulins at the neuromuscular junction in vivo. Science 1997;276:599-603.
31. Tansey MG, Chu GC, Merlie JP. ARIA/HRG regulates AChR epsilon subunit gene expression at the neuromuscular synapse via activation of phosphatidylinositol 3-kinase and RAS/MAPK pathway. J Cell Biol 1996;134:465-476.
32. Si J, Luo Z, Mei L. Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase. J Biol Chem 1996;271:19752-19759.
33. Gautam M, Noakes PG, Moscoso L, et al. Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 1996;85: 525-535.
34. Dechiara TM, Bowen DC, Valenzuela DM, et al. The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell 1996;85:501-512.
35. Glass DJ, Bowen DC, Stitt TN, et al. Agrin acts via MuSK receptor complex. Cell 1996;85:513-523.
36. Gautam M, Noakes PG, Mudd J, et al. Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyndeficient mice. Nature 1995;377:232-236.
37. Phillips WD. Acetylcholine receptors and the cytoskeletal connection. Clin Exp Pharmacol Physiol 1995;22:961-965.
38. Deconinck AE, Potter AC, Tinsley JM, et al. Postsynaptic abnormalities at the neuromuscular junction of utrophin-deficient mice. J Cell Biol 1997;136:883-894.
39. Grady RM, Merlie JP, Sanes JR. Subtle neuromuscular defects in utrophin-deficient mice. J Cell Biol 1997;136:871-882.
40. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes caused by mutations in acetylcholine receptor genes. Neurology 1997;48(5 Suppl):S28-S35.
41. Ohno K, Hutchinson DO, Milone M, et al. Molecular genetic basis of a slow channel syndrome (abstract). Muscle Nerve 1995;18:463.
42. Wang H-L, Auerbach A, Bren N, Ohno K, Engel AG, Sine SM. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J Gen Physiol 1997;109:757-766.
43. Gomez CM, Gammack JT. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology 1995;45:982-985.
44. Maselli RA, Leung C. Analysis of anticholinesterase-induced neuromuscular transmission failure. Muscle Nerve 1993;16:548-553.
45. Dennis M, Giraudat J, Kotzyba-Hilbert F, et al. Amino acids of Torpedo marmorata acetylcholine receptor alpha subunit labeled by a photoaffinity ligand for the acetylcholine binding site. Biochemistry 1988;27:2346-2357.
46. Uchitel O, Engel AG, Walls TJ, Nagel A, Atassi ZM, Bril V. Congenital myasthenic syndromes: II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve 1993;16:1293-1301.
47. Sine SM. Molecular dissection of subunit interfaces in the acetylcholine receptor: identification of residues that determine curare selectivity. Proc Natl Acad Sci U S A 1993;90:9436-9440.
48. Sine SM, Kreinkamp H-J, Bren N, Maeda R, Taylor P. Molecular dissection of subunit interfaces in the acetylcholine receptor: identification of determinants of α-conotoxin M1 selectivity. Neuron 1995;15:205-211.
49. Sine SM. Identification of equivalent residues in the gamma, delta, and epsilon subunits of the nicotinic receptor that contribute to α-bungarotoxin binding. J Biol Chem 1997;272:23521-23527.
50. Hesselmans LFGM, Jennekens FGI, Vand Den Oord CJM, Veldman H, Vincent A. Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. Anat Rec 1993;236:553-562.
51. Witzemann V, Schwartz H, Koenen M, et al. Acetylcholine receptor epsilon subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. Proc Natl Acad Sci USA 1996; 93:13286-13291.
52. Villarroel A, Sakmann B. Calcium permeability increase of endplate channels in rat muscle during postnatal development. J Physiol (Lond) 1996;496:331-338.
53. Fukudome T, Ohno K, Brengman JM, et al. Quinidine normalizes the open duration of slow channel mutants of the acetylcholine receptor. Neuroreport 1998 (June).
54. Harper CM, Engel AG. Quinidine sulfate in the treatment of the slow channel congenital myasthenic syndrome. Ann Neurol 1998; 4:185-194.
55. Sieb JP, Milone M, Engel AG. Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission. Brain Res 1996;712:179-189.