Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

Muscle and Nerve

Volumn 28, Issue 3, 2003, Pages 293-301

  Maselli, Ricardo A ^a   Dunne, Vanessa ^a   Pascual Pascual, Samuel Ignacio ^b   Bowe, Constance ^a   Agius, Mark ^a   Frank, Rochelle ^a   Wollmann, Robert L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Acetylcholine receptor clustering; Congenital myasthenic syndrome; Rapsyn; Sudden infant death syndrome

Indexed keywords

3,4 DIAMINOPYRIDINE; CHOLINERGIC RECEPTOR; PYRIDOSTIGMINE; RAPSYN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENDPLATE POTENTIAL; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; NERVE ENDING; NEUROMUSCULAR JUNCTION DISORDER; PHENOTYPE; POSTSYNAPTIC MEMBRANE; PRESCHOOL CHILD; RECEPTOR DENSITY; SUDDEN INFANT DEATH SYNDROME;

ADOLESCENT; CHILD, PRESCHOOL; EXCITATORY POSTSYNAPTIC POTENTIALS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICROSCOPY, ELECTRON; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; PEDIGREE; PHENOTYPE; RECEPTORS, CHOLINERGIC; SYNAPTIC MEMBRANES; SYNAPTIC TRANSMISSION;

EID: 0042933803     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10433     Document Type: Article

References (25)

1. Bartoli M, Ramarao MK, Cohen JB. Interactions of rapsyn RINC-H2 domain with dystroglycan. J Biol Chem 2001;276:24911-24917.
2. DeChiara TM, Bowen DC, Valenzuela DM, Simmons MV, Poueymirou WT, Thomas S, Kinetz E, Compton DL, Burden SJ, Yancopoulos GD. The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell 1996;85:501-512.
3. Dunne VP, Maselli RA. Identification of pathogenic mutations in the human rapsyn gene. J Hum Genet (in press).
4. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RG. Endplate acetylcholine receptor deficiency due to nonsense mutations in a subunit. Ann Neurol 1996;40:810-817.
5. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: recent advances. Arch Neurol 1999;56:163-167.
6. Frail DE, McLaughlin LL, Mudd J, Merlie JP. Identification of the mouse muscle 43,000-dalton acetylcholine receptor associated protein (rapsyn) by cDNA cloning. J Biol Chem 1988;263:15602-15607.
7. Froehner SC, Luetje CW, Scotland PB, Patrick J. The postsynaptic 43kDa protein clusters muscle nicotinic acetylcholine receptors in Xenopus oocytes. Neuron 1990;5;403-410.
8. Gautam M, DeChiara TM, Glass DJ, Yancopoulos GD, Sanes JR. Distinct phenotypes of mutant mice lacking agrin, MuSK or rapsyn. Brain Res Dev Brain Res 1999;114:171-178.
9. Gautam M, Noakes PG, Moscosoo L, Rupp F, Scheller RH, Merlie JP, Sanes JR. Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 1996;85:525-535.
10. Gautam M, Noakes PG, Mudd J; Nichol M, Chu GC, Sanes JR, Merlie JP. Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature 1995;337:232-236.
11. Gomez CM, Wollmann RL, Richman DP. Induction of the morphologic changes of both acute and chronic myasthenias by monoclonal antibody directed against acetylcholine receptor. Acta Neuropathol 1984;63:131-143.
12. Han H, Noakes PG, Phillips WD. Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells. J Neurocytol 2000;28:763-775.
13. LaRochelle WJ, Froehner SC. Determination of the tissue distributions and relative concentrations of the postsynaptic 43-kDa protein and the acetylcholine receptor in Torpedo. J Biol Chem 1986;261:5270-5274.
14. Maselli R, Chen M, Chen T-Y, Kong D, Constance B, Mc-Donald C, Fairclough RH, Gomez CM, Wollman RL. A heteroallelic nonsense/missense mutation in acetylcholine receptor a-subunit causing severe endplate AChR deficiency. Neurology 2002;58(suppl 3):A230.
15. Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, Gomez CM, Richman DP, Wollmann RL. Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology 2001;24:279-289.
16. Maselli RA, Wollman RL, Leung C, Distad B, Palombi S, Richman DP, Salazar-Grueso EF, Roos RP. Neuromuscular transmission in amyotrophic lateral sclerosis. Muscle Nerve 1993;11:1193-1203.
17. Ohno K, Engel AG, Shen X-M, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-885.
18. Phillips WD, Maimone MM, Merlie JP. Mutagenesis of the 43-kD postsynaptic protein defines domains involved in plasma membrane targeting and AChR clustering. J Cell Biol 1991;115:1713-1723.
19. Ponting CCP, Phillops C. Rapsyn's knob and holes: eight tetratricopeptide repeats. Biochem J 1996;314:1053-1056.
20. Quiram P, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly. J Clin Invest 1999;104:1403-1410.
21. Ramarao MK, Bianchetta MJ, Lanken J, Cohen JB. Role of rapsyn tetratricopeptides repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J Biol Chem 2001;276:7475-7483.
22. Ramarao MK, Cohen JB. Mechanism of nicotinic acetylcholine receptor cluster formation of rapsyn. Proc Natl Acad Sci USA 1998;95:4007-4012.
23. Sanes JR. Genetic analysis of postsynaptic differentiation at the vertebrate neuromuscularjunction. Curr Opin Neurobiol 1997;7:93-100.
24. Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 2002;59:1881-1888.
25. Smit LME, Hageman G, Veldman H, Molenaar PC, Oen BS, Jennekens FGI. A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome. Muscle Nerve 1988;11:337-348.