Anti-MuSK autoantibodies block binding of collagen Q to MuSK

Neurology

Volumn 77, Issue 20, 2011, Pages 1819-1826

  Kawakami, Y ^a   Ito, M ^a   Hirayama, M ^a   Sahashi, K ^b   Ohkawara, B ^a   Masuda, A ^a   Nishida, H ^c   Mabuchi, N ^d   Engel, A G ^e   Ohno, K ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b AICHI MEDICAL UNIVERSITY   (Japan)

^c GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

^d Okazaki City Hospital   (Japan)

^e MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN Q; ENZYME ANTIBODY; IMMUNOGLOBULIN G; MUSCLE SPECIFIC RECEPTOR TYROSINE KINASE; MUSCLE SPECIFIC RECEPTOR TYROSINE KINASE ANTIBODY; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME BINDING; FEMALE; HUMAN; IN VITRO STUDY; MALE; MOUSE; MYASTHENIA GRAVIS; NEUROMUSCULAR SYNAPSE; NONHUMAN; PRIORITY JOURNAL;

EID: 82955228943     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318237f660     Document Type: Article

References (37)

1. Kim N, Stiegler AL, Cameron TO, et al. Lrp4 is a receptor for Agrin and forms a complex with MuSK. Cell 2008; 135:334-342.
2. Zhang B, Luo S, Wang Q, Suzuki T, Xiong WC, Mei L. LRP4 serves as a coreceptor of agrin. Neuron 2008;60: 285-297.
3. 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. (Pubitemid 26157189)
4. Okada K, Inoue A, Okada M, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 2006;312:1802-1805. (Pubitemid 43962899)
5. Wu H, Xiong WC, Mei L. To build a synapse: Signaling pathways in neuromuscular junction assembly. Development 2010;137:1017-1033.
6. Krejci E, Thomine S, Boschetti N, Legay C, Sketelj J, Massoulié J. The mammalian gene of acetylcholinesteraseassociated collagen. J Biol Chem 1997;272:22840-22847.
7. Deprez P, Inestrosa NC, Krejci E. Two different heparinbinding domains in the triple-helical domain of ColQ, the collagen tail subunit of synaptic acetylcholinesterase. J Biol Chem 2003;278:23233-23242. (Pubitemid 36830136)
8. Peng HB, Xie H, Rossi SG, Rotundo RL. Acetylcholinesterase clustering at the neuromuscular junction involves perlecan and dystroglycan. J Cell Biol 1999;145:911-921. (Pubitemid 29240865)
9. Cartaud A, Strochlic L, Guerra M, et al. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. J Cell Biol 2004;165:505-515. (Pubitemid 38679616)
10. Farrugia ME, Vincent A. Autoimmune mediated neuromuscular junction defects. Curr Opin Neurol 2010;23: 489-495.
11. Farrugia ME, Robson MD, Clover L, et al. MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis. Brain 2006; 129:1481-1492. (Pubitemid 43999381)
12. Evoli A, Tonali PA, Padua L, et al. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain 2003;126:2304-2311. (Pubitemid 37432373)
13. Sanders DB, El-Salem K, Massey JM, McConville J, Vincent A. Clinical aspects of MuSK antibody positive seronegative MG. Neurology 2003;60:1978-1980. (Pubitemid 36736017)
14. Hatanaka Y, Hemmi S, Morgan MB, et al. Nonresponsiveness to anticholinesterase agents in patients with MuSK-antibody-positive MG. Neurology 2005;65:1508-1509. (Pubitemid 41552801)
15. Pasnoor M, Wolfe GI, Nations S, et al. Clinical findings in MuSK-antibody positive myasthenia gravis: A U.S. experience. Muscle Nerve 2010;41:370-374.
16. McConville J, Farrugia ME, Beeson D, et al. Detection and characterization of MuSK antibodies in seronegative myasthenia gravis. Ann Neurol 2004;55:580-584. (Pubitemid 38391977)
17. Shiraishi H, Motomura M, Yoshimura T, et al. Acetylcholine receptors loss and postsynaptic damage in MuSK antibody-positive myasthenia gravis. Ann Neurol 2005;57: 289-293. (Pubitemid 40179868)
18. Niks EH, van Leeuwen Y, Leite MI, et al. Clinical fluctuations in MuSK myasthenia gravis are related to antigenspecific IgG4 instead of IgG1. J Neuroimmunol 2008; 195:151-156.
19. Ohno K, Brengman J, 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. (Pubitemid 28506287)
20. Okada T, Shimazaki K, Nomoto T, et al. Adenoassociated viral vector-mediated gene therapy of ischemiainduced neuronal death. Methods Enzymol 2002;346: 378-393. (Pubitemid 41103149)
21. Horejsi J, Smetana R. The isolation of gamma globulin from blood-serum by rivanol. Acta Med Scand 1956;155: 65-70.
22. Feng G, Krejci E, Molgo J, Cunningham JM, Massoulie J, Sanes JR. Genetic analysis of collagen Q: Roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function. J Cell Biol 1999;144: 1349-1360. (Pubitemid 29157310)
23. Kimbell LM, Ohno K, Engel AG, Rotundo RL. C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem 2004;279:10997-11005. (Pubitemid 38401591)
24. Cole RN, Reddel SW, Gervasio OL, Phillips WD. Anti- MuSK patient antibodies disrupt the mouse neuromuscular junction. Ann Neurol 2008;63:782-789. (Pubitemid 351945537)
25. Toyka KV, Drachman DB, Griffin DE, et al. Myasthenia gravis: Study of humoral immune mechanisms by passive transfer to mice. N Engl J Med 1977;296:125-131. (Pubitemid 8066391)
26. Cole RN, Ghazanfari N, Ngo ST, Gervasio OL, Reddel SW, Phillips WD. Patient autoantibodies deplete postsynaptic muscle-specific kinase leading to disassembly of the ACh receptor scaffold and myasthenia gravis in mice. J Physiol 2010;588:3217-3229.
27. ter Beek WP, Martinez-Martinez P, Losen M, et al. The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates. Am J Pathol 2009;175:1536-1544.
28. Shigemoto K, Kubo S, Maruyama N, et al. Induction of myasthenia by immunization against muscle-specific kinase. J Clin Invest 2006;116:1016-1024.
29. Jha S, Xu K, Maruta T, et al. Myasthenia gravis induced in mice by immunization with the recombinant extracellular domain of rat muscle-specific kinase (MuSK). J Neuroimmunol 2006;175:107-117. (Pubitemid 43765734)
30. Boneva N, Frenkian-Cuvelier M, Bidault J, Brenner T, Berrih-Aknin S. Major pathogenic effects of anti-MuSK antibodies in myasthenia gravis. J Neuroimmunol 2006; 177:119-131. (Pubitemid 44108241)
31. Farrugia ME, Bonifati DM, Clover L, Cossins J, Beeson D, Vincent A. Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell cultures. J Neuroimmunol 2007;185:136-144. (Pubitemid 46497437)
32. Sigoillot SM, Bourgeois F, Lambergeon M, Strochlic L, Legay C. ColQ controls postsynaptic differentiation at the neuromuscular junction. J Neurosci 2010;30:13-23.
33. Selcen D, Fukuda T, Shen X-M, Engel AG. Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology 2004;62:1945-1950. (Pubitemid 38738201)
34. Niks EH, Kuks JB, Wokke JH, et al. Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia. Muscle Nerve 2010;42:283.
35. Punga AR, Maj M, Lin S, Meinen S, Ruegg MA. MuSK levels differ between adult skeletal muscles and influence postsynaptic plasticity. Eur J Neurosci 2011;33:890-898.
36. Krejci E, Legay C, Thomine S, Sketelj J, Massoulie J. Differences in expression of acetylcholinesterase and collagen Q control the distribution and oligomerization of the collagen-tailed forms in fast and slow muscles. J Neurosci 1999;19:10672-10679. (Pubitemid 30235714)
37. Xu K, Jha S, Hoch W, Dryer SE. Delayed synapsing muscles are more severely affected in an experimental model of MuSK-induced myasthenia gravis. Neuroscience 2006; 143:655- 659. (Pubitemid 44751373)