Genetic defects and disorders at the neuromuscular junction

Brain and Nerve

Volumn 63, Issue 7, 2011, Pages 669-678

  Ohno, Kinji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Congenital myasthenic syndromes; Neuromuscular junction; Neuromuscular synaptic transmission; Nicotinic acetylcholine receptor

Indexed keywords

ACETYLCHOLINE; ACETYLCHOLINESTERASE; AGRIN; AUTOANTIBODY; BOTULINUM TOXIN; BUNGAROTOXIN; CHOLINE; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; COLLAGEN; COLLAGEN Q; CURARE; DOK7 PROTEIN; DYSTROGLYCAN; HEPARIN; LRP4 PROTEIN; MUSCLE SPECIFIC KINASE; ORGANOPHOSPHATE PESTICIDE; PERLECAN; PHOSPHOTRANSFERASE; PROTEOGLYCAN; RAPSYN; SARIN; SODIUM CHANNEL NAV1.4; UNCLASSIFIED DRUG;

BASEMENT MEMBRANE; CENANI LENZ SYNDACTYLY SYNDROME; CONGENITAL MYASTHENIC SYNDROME; DEPOLARIZATION; FACE MALFORMATION; GENETIC DISORDER; HUMAN; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE FATIGUE; MUSCLE WEAKNESS; MUTATION; NERVE ENDING; NEUROMUSCULAR SYNAPSE; REVIEW; SCHWARTZ JAMPEL SYNDROME; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; SYNAPSE; SYNDACTYLY;

ADULT; CHILD, PRESCHOOL; HUMANS; MYASTHENIC SYNDROMES, CONGENITAL; NEURAL CONDUCTION; NEUROMUSCULAR JUNCTION;

EID: 79960746929     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (49)

1. Engel AG, Ohno K, Sine SM: Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 4: 339-352, 2003 (Pubitemid 37280173)
2. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, et al: Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A 92: 758-762, 1995
3. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, et al: Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15: 229-239, 1995
4. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, et al: Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 70: 875-885, 2002 (Pubitemid 34259304)
5. Milone M, Shen XM, Selcen D, Ohno K, Brengman J, et al: Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology 73: 228-235, 2009
6. Huze C, Bauche S, Richard P, Chevessier F, Goillot E, et al: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet 85: 155-167, 2009
7. Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, et al: MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet 13: 3229-3240, 2004 (Pubitemid 40045274)
8. Chevessier F, Girard E, Molgo J, Bartling S, Koenig J, et al: A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. Hum Mol Genet 17: 3577-3595, 2008
9. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, et al: Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978, 2006
10. Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, et al: Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. J Biol Chem 283: 5518-5524, 2008
11. Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, et al: Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 100: 7377-7382, 2003 (Pubitemid 36706445)
12. 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 U S A 95: 9654-9659, 1998 (Pubitemid 28506287)
13. Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG: Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A - > G splice-donor-site mutation at position +3 of the collagenlike-tail- subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet 65: 635-644, 1999 (Pubitemid 30468707)
14. 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 279: 10997-11005, 2004
15. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, et al: Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 98: 2017-2022, 2001 (Pubitemid 32165615)
16. Hesselmans LF, Jennekens FG, Van den Oord CJ, Veldman H, Vincent A: Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. Anat Rec 236: 553-562, 1993 (Pubitemid 23193323)
17. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, et al: Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 79: 390-395, 2006 (Pubitemid 44141839)
18. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, et al: Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 79: 303-312, 2006 (Pubitemid 44141828)
19. Michalk A, Strieker S, Becker J, Rupps R, Pantzar T, et al: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 82: 464-476, 2008 (Pubitemid 351726100)
20. Arikawa-Hirasawa E, Watanabe H, Takami H, Hassell JR, Yamada Y: Perlecan is essential for cartilage and cephalic development. Nat Genet 23: 354-358, 1999
21. Arikawa-Hirasawa E, Rossi SG, Rotundo RL, Yamada Y: Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. Nat Neurosci 5: 119-123, 2002 (Pubitemid 34121578)
22. Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, et al: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet 86: 696-706, 2010
23. Johnson EB, Hammer RE, Herz J: Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. Hum Mol Genet 14: 3523-3538, 2005 (Pubitemid 41672134)
24. Farrugia ME, Vincent A: Autoimmune mediated neuromuscular junction defects. Curr Opin Neurol 23: 489-495, 2010
25. Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, et al: Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med 7: 365-368, 2001 (Pubitemid 32224355)
26. Cole RN, Reddel SW, Gervasio OL, Phillips WD: Anti-MuSK patient antibodies disrupt the mouse neuromuscular junction. Ann Neurol 63: 782-789, 2008 (Pubitemid 351945537)
27. Higuchi O, Hamuro J, Motomura M, Yamanashi Y: Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis. Ann Neurol 69: 418-422, 2011
28. Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, et al: An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 448: 934-937, 2007 (Pubitemid 47312776)
29. Shillito P, Molenaar PC, Vincent A, Leys K, Zheng W, et al: Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 38: 714-722, 1995
30. Cai Y, Cronin CN, Engel AG, Ohno K, Hersh LB, et al: Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J 23: 2047-2058, 2004 (Pubitemid 38737732)
31. Ohno K, Engel AG, Brengman JM, Shen XM, Heidenrich F, et al: The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol 47: 162-170, 2000 (Pubitemid 30078562)
32. Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, et al: Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology 65: 144-146, 2005 (Pubitemid 40967793)
33. Mihaylova V, Muller JS, Vilchez JJ, Salih MA, Kabiraj MM, et al: Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 131: 747-759, 2008 (Pubitemid 351294715)
34. Sieb JP, Engel AG: Ephedrine: effects on neuromuscular transmission. Brain Res 623: 167-171, 1993 (Pubitemid 23267405)
35. Milone M, Engel AG: Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol. Brain Res 740: 346-352, 1996 (Pubitemid 26411318)
36. Fukudome T, Ohno K, Brengman JM, Engel AG: Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 9: 1907-1911, 1998
37. Harper CM, Fukodome T, Engel AG: Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology 60: 1710-1713, 2003 (Pubitemid 36618113)
38. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, et al: Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 17: 157-170, 1996 (Pubitemid 26251600)
39. Milone M, Wang HL, Ohno K, Prince R, Fukudome T, et al: Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron 20: 575-588, 1998 (Pubitemid 28153086)
40. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, et al: Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci 2: 226-233, 1999 (Pubitemid 30491292)
41. Shen X-M, Ohno K, Sine SM, Engel AG: Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain 128: 345-355, 2005
42. Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG: Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest 118: 1867-1876, 2008
43. Ohno K, Quiram PA, Milone M, Wang H-L, Harper MC, et al: Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 6: 753-766, 1997 (Pubitemid 27199069)
44. Ohno K, Anlar B, Ozdirim E, Brengman JM, DeBleecker JL, et al: Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 44: 234-241, 1998 (Pubitemid 28374112)
45. Ohno K, Engel AG: Congenital myasthenic syndromes: Genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep 2: 78-88, 2002
46. Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG: E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 12: 739-748, 2003 (Pubitemid 36416960)
47. Ohno K, Engel AG: Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. J Med Genet 41: e8, 2004
48. Raja Rayan DL, Hanna MG: Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol 23: 466-476, 2010
49. Struyk AF, Scoggan KA, Bulman DE, Cannon SC: The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. Neurosci 20: 8610-8617, 2000