Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor ε-subunit gene

Neurology

Volumn 53, Issue 5, 1999, Pages 1076-1082

  Middleton, L ^a   Ohno, K ^b   Christodoulou, K ^a   Brengman, J ^b   Milone, M ^b   Neocleous, V ^a   Serdaroglu P ^f   Deymeer, F ^f   Ozdemir C ^f   Mubaidin, A ^c   Horany, K ^c   Al Shehab, A ^d   Mavromatis, I ^e   Mylonas, I ^e   Tsingis, M ^a   Zamba, E ^a   Pantzaris, M ^a   Kyriallis, K ^a   Engel, A G ^b  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b MAYO CLINIC   (United States)

^c KING HUSSEIN MEDICAL CENTER   (Jordan)

^d UNIVERSITY OF JORDAN   (Jordan)

^e ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^f Mayo Clinic ^*

Author keywords

Acetylcholine receptor; Chromosome 17p; Congenital myasthenic syndromes

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT; SIGNAL PEPTIDE; SYNAPTOBREVIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 17P; CLINICAL ARTICLE; EMBRYO; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MYASTHENIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION MAPPING; RNA SPLICING; TELOMERE;

EID: 20244383427     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.5.1076     Document Type: Article

References (31)

1. 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.
2. Ohno K, Brengman JM, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci USA 1998;95:9654-9659.
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 NY Acad Sci 1993;681:461-468.
4. Mora M, Lambert EH, Engel AG. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987;37:206-214.
5. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: recent advances. Arch Neurol 1999;56:163-167.
6. 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 ∈ subunit. Proc Natl Acad Sci USA 1995;92:758-762.
7. Sine SM, Ohno K, Bouzat C, et al. Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995;15: 229-239.
8. 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.
9. 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.
10. Ohno K, Wang H-L, Milone M, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation m the acetylcholine receptor e subunit. Neuron 1996;17:157-170.
11. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RG. End-plate acetylcholine receptor deficiency due to nonsense mutations in the e subunit. Ann Neurol 1996;40:810-817.
12. Ohno K, Quiram P, Milone M, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ∈ subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997;6:753-766.
13. Ohno K, Anlar B, Özdirim E, Brengman JM, De Bleecker J, Engel AG. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998;44: 234-241.
14. Christodoulou K, Tsingis M, Deymeer F, et al. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) to chromosome 17p with evidence of genetic homogeneity. Hum Mol Genet 1997;6:635-640.
15. Middleton LT, Ohno K, Christodoulou K, et al. Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ∈ subunit gene. Neurology 1998;50:A432. Abstract.
16. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988;16:1215.
17. Schoepfer R, Luther M, Lindstrom J. The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. FEBS Lett 1988;226:235-240.
18. 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.
19. Lee BS, Gunn RB, Kopito RR. Functional differences among nonerythroid anion exchangers expressed in a transfected human cell line. J Biol Chem 1991;266:11448-11454.
20. Maquat LE. Defects in RNA splicing and the consequences of shortened translational reading frames. Am J Hum Genet 1996;59:279-286.
21. Nakai K, Sakamoto H. Construction of a novel data base containing aberrant splicing mutations of mammalian genes. Gene 1994;141:171-177.
22. Fukudome T, Ohno K, Brengman JM, Engel AG. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 1998;9:1907-1911.
23. Croxen R, Beeson D, Newland C, Betty M, Vincent A, Newsom-Davis J. A single nucleotide deletion in the ∈ subunit gene of the acetylcholine receptor in five congenital myasthenic syndrome patients with AChR deficiency. Ann NY Acad Sci 1998;841:195-202.
24. Sine SM, Taylor P. Functional consequences of agonist mediated state transitions in the cholinergic receptor. Studies in cultured muscle cells. J Biol Chem 1979;254:3315-3325.
25. Sine SM, Claudio T. Gamma and delta subunits regulate the affinity and the cooperativity of ligand binding to the acetylcholine receptor. J Biol Chem 1991;266:19369-19377.
26. Milone M, Wang H-L, Ohno K, et al. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ∈ subunit. Neuron 1998;20:575-588.
27. Hurtley SM, Helenius A. Protein oligomerization in the endoplasmic reticulum. Annu Rev Cell Biol 1989;5:277-307.
28. Lodish H, Baltimore D, Berk A, Zipursky SL, Matsudaira P, Darnell J. Molecular cell biology. 3rd ed. New York: Scientific American Books, 1995.
29. Alberts B, Bray D, Lewis J, Raff M, Roberts K, Watson JD, eds. Molecular biology of the cell. 3rd ed. New York: Garland Publishing, 1994:551-598.
30. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl Acids Res 1987;15:7155-7174.
31. Krawczak M, Reiss J. Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90: 41-54.