Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: Established concepts, new cellular mechanisms involved

Cell Calcium

Volumn 37, Issue 2, 2005, Pages 121-127

  Avila, Guillermo ^a  

^a DEPARTAMENTO DE FÍSICA   (Mexico)

Author keywords

Excitation contraction coupling; Muscle disease; Ryanodine receptor

Indexed keywords

CALCIUM ION; MUTANT PROTEIN; RECEPTOR SUBTYPE; RYANODINE RECEPTOR; CALCIUM;

CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CENTRONUCLEAR MYOPATHY; DISEASE ASSOCIATION; EXCITATION CONTRACTION COUPLING; EXPERIMENTATION; GENE DELETION; GENE MUTATION; GENETIC CODE; HISTORY OF MEDICINE; HUMAN; MALIGNANT HYPERTHERMIA; MOLECULAR BIOLOGY; NONHUMAN; PATCH CLAMP; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RECORDING; REVIEW; SKELETAL MUSCLE; CENTRAL CORE DISEASE; METABOLISM;

CALCIUM; HUMANS; MALIGNANT HYPERTHERMIA; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 10944224271     PISSN: 01434160     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ceca.2004.08.001     Document Type: Article

References (71)

1. N. Monnier V. Procaccio P. Stieglitz J. Lunardi Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle Am. J. Hum. Genet. 60 1997 1316-1325
2. R. Moslehi S. Langlois I. Yam J.M. Friedman Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree Am. J. Med. Genet. 76 1998 21-27
3. D.H. MacLennan M.S. Phillips Y. Zhang et al. The genetic and physiological basis of malignant hyperthermia in: S.G. Schultz (Eds.) Molecular Biology of Membrane Transport Disorders second ed. 1996 Plenum Press New York 181-200
4. 2+ regulation defects Physiol. Rev. 76 1996 537-592
5. K. Jurkat-Rott T. McCarthy F. Lehmann-Horn Genetics and pathogenesis of malignant hyperthermia Muscle Nerve 23 2000 4-17
6. T.V. McCarthy K.A. Quane P.J. Lynch Ryanodine receptor mutations in malignant hyperthermia and central core disease Hum. Mutat. 15 2000 410-417
7. F. Wappler Malignant hyperthermia Eur. J. Anaesthesiol. 18 2001 632-652
8. 2+ regulation Biosci. Rep. 21 2001 155-168
9. W. Melzer B. Dietze Malignant hyperthermia and excitation-contraction coupling Acta Physiol. Scand. 171 2001 367-378
10. R.T. Dirksen G. Avila Altered ryanodine receptor function in central core disease: Leaky or uncoupled Ca(2+) release channels? Trends Cardiovasc. Med. 12 2002 189-197
11. A.L. Taratuto Congenital myopathies and related disorders Curr. Opin. Neurol. 15 2002 553-561
12. H. Jungbluth C.A. Sewry F. Muntoni What's new in neuromuscular disorders? The congenital myopathies Eur. J. Paediatr. Neurol. 7 2003 23-30
13. J.D. Lueck, S.A. Goonasekera, R.T. Dirksen, Ryanodinopathies: Muscle disorders linked to mutations in ryanodine receptors, Basic Appl. Myol., in press.
14. R. Felix Channelopathies: Ion channel defects linked to heritable clinical disorders J. Med. Genet. 37 2000 729-740
15. N.M. Lorenzon K.G. Beam Calcium channelopathies Kidney Int. 57 2000 794-802
16. K. Jurkat-Rott H. Lerche F. Lehmann-Horn Skeletal muscle channelopathies J. Neurol. 249 2002 1493-1502
17. G.M. Shy K.R. Magee A new congenital non-progressive myopathy Brain 79 1956 610-621
18. M.A. Denborough R.R.H. Lovell Anesthetic deaths in a family Lancet 2 1960 45
19. J.H. Satnik Hyperthermia under anesthesia with regional muscle flaccidity Anesthesiology 30 1969 472-474
20. T.E. Nelson SR function in malignant hyperthermia Cell Calcium 9 1988 257-265
21. M. Endo S. Yagi T. Ishizuka K. Horiuti Y. Koga K. Amaha Changes in the Ca-induced Ca release mechanism in sarcoplasmic reticulum from a patient with malignant hyperthermia Biomed. Res. 4 1983 83-92
22. J.R. Mickelson E.M. Gallant L.A. Litterer K.M. Johnson W.E. Rempel C.F. Louis Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia J. Biol. Chem. 263 1988 9310-9315
23. M. Fill R. Coronado J.R. Mickelson J. Vilven J.J. Ma B.A. Jacobson C.F. Louis Abnormal ryanodine receptor channels in malignant hyperthermia Biophys. J. 57 1990 471-475
24. 2+ release channels in malignant hyperthermic skeletal muscle Biophys. J. 59 1991 1085-1090
25. I. Harbitz B. Chowdhary P.D. Thomsen W. Davies U. Kaufmann S. Kran et al. Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6 Genomics 8 1990 243-248
26. D.H. MacLennan C. Duff F. Zorzato J. Fujii M. Phillips R.G. Korneluk et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia Nature 343 1990 559-561
27. T.V. McCarthy J.M. Healy J.J. Heffron M. Lehane T. Deufel F. Lehmann-Horn et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2 Nature 343 1990 562-564
28. J. Fujii K. Otsu F. Zorzato S. de Leon V.K. Khanna J.E. Weiler et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia Science 253 1991 448-451
29. E.A. Haan C.J. Freemantle J.A. McCure K.L. Friend J.C. Mulley Assignment of the gene for central core disease to chromosome 19 Hum. Genet. 86 1990 187-190
30. K. Kausch F. Lehmann-Horn M. Janka B. Wieringa T. Grimm C.R. Muller Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19 Genomics 10 1991 765-769
31. K.A. Quane J.M. Healy K.E. Keating B.M. Manning F.J. Couch L.M. Palmucci et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia Nat. Genet. 5 1993 51-55
32. Y. Zhang H.S. Chen V.K. Khanna S. De Leon M.S. Phillips K. Schappert et al. A mutation in the human ryanodine receptor gene associated with central core disease Nat. Genet. 5 1993 46-50
33. A. Ferreiro N. Monnier N.B. Romero J.P. Leroy C. Bonnemann C.A. Haenggeli V. Straub et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ann. Neurol. 51 2002 750-759
34. H. Jungbluth C.R. Muller B. Halliger-Keller M. Brockington S.C. Brown L. Feng et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores Neurology 59 2002 284-287
35. N. Monnier A. Ferreiro I. Marty A. Labarre-Vila P. Mezin J. Lunardi A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia Hum. Mol. Genet. 12 2003 1171-1178
36. N. Monnier N.B. Romero J. Lerale Y. Nivoche D. Qi D.H. MacLennan et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor Hum. Mol. Genet. 9 2000 2599-2608
37. P.C. Scacheri E.P. Hoffman J.D. Fratkin C. Semino-Mora A. Senchak M.R. Davis et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy Neurology 55 2000 1689-1696
38. M.R. Davis E. Haan H. Jungbluth C. Sewry K. North F. Muntoni et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region oftheRYR1 gene Neuromuscul. Disord. 13 2003 151-157
39. 2+ selective microelectrodes Muscle Nerve 9 1986 85-86
40. M. Wehner H. Rueffert F. Koenig J. Neuhaus D. Olthoff Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation Clin. Genet. 62 2002 135-146
41. P.A. Iaizzo W. Klein F. Lehmann-Horn Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs Pflugers Arch. 411 1988 648-653
42. K. Censier A. Urwyler F. Zorzato S. Treves Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors J. Clin. Invest. 101 1998 1233-1242
43. 2+ release channels J. Biol. Chem. 274 1999 693-702
44. N.B. Romero N. Monnier L. Viollet A. Cortey M. Chevallay J.P. Leroy et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia Brain 136 2003 2341-2349
45. G. Avila R.T. Dirksen Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor J. Gen. Physiol. 118 2001 277-290
46. G. Avila K.M. O'Connell R.T. Dirksen The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease J. Gen. Physiol. 121 2003 277-286
47. M. Zhao P. Li X. Li L. Zhang R.J. Winkfein S.R. Chen Molecular identification of the ryanodine receptor pore-forming segment J. Biol. Chem. 274 1999 25971-25974
48. L. Gao D. Balshaw L. Xu A. Tripathy C. Xin G. Meissner Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance Biophys. J. 79 2000 828-840
49. N. Tilgen F. Zorzato B. Halliger-Keller F. Muntoni C. Sewry L.M. Palmucci et al. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis Hum. Mol. Genet. 10 2001 2879-2887
50. F. Zorzato N.N. Yamaguchi L. Xu G. Meissner C.R. Muller P. Pouliquin et al. Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor Hum. Mol. Genet. 12 2003 379-388
51. G. Avila J.J. O'Brien R.T. Dirksen Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor Proc. Natl. Acad. Sci. U.S.A. 98 2001 4215-4220
52. J.A. Morgan-Hughes E.M. Brett B.D. Lake F.M. Tome Central core disease or not? Observations on a family with a non-progressive myopathy Brain 96 1973 527-536
53. A. Shuaib R.T. Paasuke K.W. Brownell Central core disease. Clinical features in 13 patients Medicine (Baltimore) 66 1987 389-396
54. M.F. Schneider W.K. Chandler Voltage dependent charge movement of skeletal muscle: A possible step in excitation-contraction coupling Nature 242 1973 244-246
55. T. Tanabe K.G. Beam J.A. Powell S. Numa Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA Nature 336 1988 134-139
56. E. Rios G. Brum Involvement of dihydropyridine receptors in excitation-contraction coupling in skeletal muscle Nature 325 1987 717-720
57. 2+ current facilitation in skeletal muscle of transgenic mice lacking the type 1 ryanodine receptor J. Physiol 496 1996 339-345
58. J. Nakai R.T. Dirksen H.T. Nguyen I.N. Pessah K.G. Beam P.D. Allen Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor Nature 380 1996 72-75
59. E.M. Gallant L.R. Lentz Excitation-contraction coupling in pigs heterozygous for malignant hyperthermia Am. J. Physiol. 262 1992 422-426
60. E.M. Gallant R.C. Jordan Porcine malignant hyperthermia: Genotype and contractile threshold of immature muscles Muscle Nerve 19 1996 68-73
61. 2+ release J. Physiol. 526 2000 507-514
62. T. Yang T.A. Ta I.N. Pessah P.D. Allen Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling J. Biol. Chem. 278 2003 25722-25730
63. 2+ release channel function and severe central core disease Proc. Natl. Acad. Sci. U.S.A. 96 1999 4164-4169
64. 2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum J. Biol. Chem. 273 1998 31867-31872
65. 2+ channel expression J. Biol. Chem. 276 2001 17732-17738
66. 2+ activation of RyR1 is not necessary for the initiation of skeletal-type excitation-contraction coupling Biophys. J. 82 2002 2428-2435
67. 2+ release Biochem. J. 382 2004 557-564
68. C.H. George H. Jundi N.L. Thomas M. Scoote N. Walters A.J. Williams et al. Ryanodine receptor regulation by intramolecular interaction between cytoplasmic and transmembrane domains Mol. Biol. Cell 15 2004 2627-2638
69. 2+ sensor J. Biol. Chem. 273 1998 14675-14678
70. 2+ release channel of skeletal muscle sarcoplasmic reticulum (Ryanodine Receptor Isoform 1) J. Biol. Chem. 279 2004 37566-37574
71. N. Ikemoto T. Yamamoto Postulated role of inter-domain interaction within the ryanodine receptor in Ca(2+) channel regulation Trends Cardiovasc. Med. 10 2000 216-310