Acetylcholine receptor expression in human extraocular muscles and their susceptibility to myasthenia gravis

Annals of Neurology

Volumn 41, Issue 4, 1997, Pages 423-431

  MacLennan, C ^a   Beeson, D ^a   Buijs, A M ^a   Vincent, A ^a   Newsom Davis, J ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; EXTRAOCULAR MUSCLE; GASTROCNEMIUS MUSCLE; HUMAN; HUMAN TISSUE; INTERCOSTAL MUSCLE; MAJOR CLINICAL STUDY; MYASTHENIA GRAVIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; GENE AMPLIFICATION; HUMANS; INFANT; MIDDLE AGED; MUSCLE, SKELETAL; MYASTHENIA GRAVIS; OCULAR MOTILITY DISORDERS; OCULOMOTOR MUSCLES; RECEPTORS, CHOLINERGIC; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0030929797     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410404     Document Type: Article

References (33)

1. Newsom-Davis J, Vincent A, Willcox HN. Autoimmune disor- ders of the neuromuscular junction. In: Lachmann PJ, Peters DK, Rosen FS, Walport NJ. Clinical aspects of immunology, vol 3. 5th ed. Oxford: Blackwell Scientific Publications, 1993:2091-2111
2. Bever CT, Aquino AV, Penn AS, et al. Prognosis of ocular myasthenia. Ann Neurol 1983;14:516-519
3. Vincent A, Newsom-Davis J. Acetylcholine receptor antibody characteristics in myasthenia gravis. I. Patients with generalized myasthenia or disease restricted to ocular muscles. Clin Exp Im- munol 1982;49:257-265
4. Vincent A, Newsom-Davis J. Acetylcholine receptor antibody as a diagnostic test for myasthenia gravis: results in 153 validated cases and 2967 diagnostic assays. J Neurol Neurosurg Psychiatry 1985;48:1246-1252
5. Oda K, Ito Y. Myasthenia gravis. Antibodies to acetylcholine receptor in ocular myasthenia gravis. J Neurol 1981;10:437- 447
6. Oda K. Differences in acetylcholine receptor-antibody interactions between extraocular and extremity muscle fibres. Ann NY Acad Sci 1993;681:238 -255
7. Kaminski HJ, Maas E, Spiegel P, Ruf RL. Why are eye mus- cles frequently involved in myasthenia gravis? Neurology 1990;40:1663-1669
8. Horton RM, Manfredi AA, Contl-Tronconi BM. The "embryonic" gamma subunit of the nicotinic acetylcholine receptor is expressed in adult extraocular muscle. Neurology 1993;43:983- 986
9. Kaminski H, Kusner L, Nash K, Ruff R. The γ-subunit of the acetylcholine receptor is not expressed in the levator palpebrae superiori. Neurology 1995;45:516-518
10. Kaminiski H, Kusner L, Block C. Expression of acetylcholine receptor isoforms at extraocular endplates. Invest Ophthalmol Vis Sci 1996;37:345-351
11. Mishina M, Takai T, Imoto K, et al. Molecular distinction be- tween fetal and adult forms of muscle acetylcholine receptor. Nature 1986;321:406-411
12. Weinberg CB, Hall ZW. Antibodies from patients with myasthenia gravis recognise determinants unique to extrajunctional acetylcholine receptors. Proc Natl Acad Sci USA 1979;76:504- 508
13. Vincent A, Newsom-Davis J. Acetylcholine receptor antibody characteristics in myasthenia gravis. III. Patients with low anti- AChR antibody levels. Clin Exp Immunol 1985;60:631-636
14. Vincent A, Newland C, Brueton L, et al, Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Lancet 1995;346:24-25
15. Beeson D, Amar M, Bermudez I, et al. Stable functional expression of the adult subtype of muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the e subunic. Neurosci Lett 1996;207:57-60
16. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159
17. Sambrook J, Fritsch EF, Maniatis T. Plasmid vector. In: Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989:1.38- 1.46
18. Noda M, Furutani Y, Takahashi H, et al. Cloning and se- quence analysis of calf cDNA and human genomic DNA en- coding α subunit precursor of muscle acetylcholine receptor. Nature 1983;305:818-823
19. Beeson D, Brydson M, Newsom-Davis J. Nucleotide sequence of human muscle acetylcholine receptor β subunit. Nucleic Acids Res 1989;17:4391
20. Shibahara S, Kubo T, Perski H, et al. Cloning and sequence analysis of human genomic DNA encoding γ subunit precursor of muscle acetylcholine receptor. Eur J Biochem 1985;146:15-22
21. Luther M, Schoepfer R, Whiting P, et al. A muscle acetylcho- line receptor is expressed in the human cerebellar medulloblas- toma cell line TE671. J Neurosci 1989;9:1082-1096
22. Beeson D, Brydson M, Betty M, et al. Primary structure of the human muscle acetylcholine receptor: cDNA cloning of the γ and ε subunits. Eur J Biochem 1993;215:229-238
23. Beeson D, Morris A, Vincent A, Newsom-Davis J. The human muscle nicotinic acetylcholine receptor α subunit exists as two isoforms: a novel exon. EMBO J 1990;9:2101-2106
24. Chelly J, Concordet J, Kaplan J-C, Kahn A. Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 1989;86:2617-2621
25. Moss S, Darlison M, Beeson D, Barnard E. Developmental ex- pression of the genes encoding the four subunits of the chicken muscle acetylcholine receptor. J Biol Chem 1989;264:20199- 20205
26. Tzartos S, Barkas T, Cung M, et al. The main immunogenic region of the acetylcholine receptor: structure and role in my- asthenia gravis. Autoimmunity 1991;8:259-270
27. Witzemann V, Stein E, Barg B, et al. Primary structure and functional expression of the α-, β-, γ-, δ- and ε-subunits of the acetylcholine receptor from rat muscle. Eur J Biochem 1990;194:437-448
28. Gu Y, Hall Z. Immunological evidence for a change in subunits of the acetylcholine receptor in developing and denervatcd rat muscle. Neuron 1988;1:117-125
29. Sanes J, Johnson Y, Kotzbauer P, et al. Selective expression of an acetylcholine receptor-lacZ transgene in synaptic nuclei of adult muscle fibres. Development 1991;181-1191
30. Merlie JP, Sanes JR. Concentration of acetylcholine receptor mRNA in synaptic regions of adult muscle fibres. Nature 1985;317:66-68
31. Brehm P, Kullberg R. Acetylcholine receptor channels on adult mouse skeletal muscle are functionally identical in synaptic and nonsynaptic membrane. Proc Natl Acad Sci USA 1987;84:2550-2554
32. Duclert A, Changeux J-P. Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol Rev 1995;75:339-368
33. Klarsfeld A, Bessereau J-L, Salmon A-M, et al. An acetylcholine receptor ot-subunit promoter conferring preferential synaptic ex- pression in muscle of transgenic mice. EMBO J 1991;10:625- 632