Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

Human Molecular Genetics

Volumn 12, Issue 4, 2003, Pages 379-388

  Zorzato, Francesco ^a,b   Yamaguchi, Naohiro ^c   Xu, Le ^c   Meissner, Gerhard ^c   Müller, Clemens R ^d   Pouliquin, Pierre ^b   Muntoni, Francesco ^e   Sewry, Caroline ^e   Girard, Thierry ^a   Treves, Susan ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM ION; DANTROLENE; RYANODINE RECEPTOR; RYANODINE RECEPTOR 1; THAPSIGARGIN; TRITIUM; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; CALCIUM CELL LEVEL; CALCIUM CONDUCTANCE; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC RECOMBINATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MEMBRANE STRUCTURE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BINDING; REVIEW; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE;

TRITIUM;

EID: 0037440713     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg032     Document Type: Review

References (42)

1. 2+ release channels: does diversity in form equal diversity in function? Physiol. Rev., 76, 1027-1071.
2. Phillips, M.S., Fujii, J., Khanna, V.K., DeLeon, S., Yokobata, K., de Jong, P.J. and MacLennan, D.H. (1996) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics, 34, 24-41.
3. 2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J. Biol. Chem., 265, 2244-2256.
4. Takeshima, H., Nishimura, S., Matsumoto, T., Ishida, H., Kangawa, K., Minamino, N., Matsuo, H., Ueda, M., Hanaoka, M., Hirose, T. et al. (1989) Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature, 339, 439-445.
5. Brillantes, A.B., Ondrias, K., Scott, A., Kobrinsky, E., Ondriasova, E., Moschella, M.C., Jayaraman, T., Landers, M., Ehrlich, B.E. and Marks, A.R. (1994) Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein. Cell, 77, 513-523.
6. Marks, A.R., Marx, S.O. and Reiken S. (2002) Regulation of ryanodine receptors via macromolecular complexes. A novel role for leucine/isoleucine zippers. Trends Cardiovasc. Med., 12, 166-170.
7. Franzini-Armstrong, C. and Protasi, F. (1997) Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions. Physiol. Rev., 77, 699-729.
8. Jurkat-Rott, K., McCarthy, T. and Lehmann-Horn, F. (2000) Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve, 23, 4-17.
9. McCarthy, T.V., Quane, K.A. and Lynch, P.J. (2000) Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum. Mutat., 15, 410-417.
10. 2+ release channels? Trends. Cardiovasc. Med., 12, 189-197.
11. Isaacs, H., Heffron, J.J. and Badenhorst, M. (1975) Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J. Neurol. Neurosurg. Psychiat., 38, 1177-1186.
12. Shy, G.M. and Magee, K.R. (1956) A new congenital non-progressive myopathy. Brain, 79, 160.
13. Shuaib, A., Paasuke, R.T. and Brownell, K.W. (1987) Central core disease. Clinical features in 13 patients. Medicine (Baltimore), 66, 389-396.
14. Hayashi, K., Miller, R.G. and Brownell, A.K. (1989) Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve, 12, 95-102.
15. Greenfield, J.G., Cornman, T. and Shy, G.M. (1958) The prognostic value of the muscle biopsy in the "floppy infant". Brain, 81, 461.
16. Gronert, G., Antonigni, J. and Pessah, I. (2000) Malignant Hyperthermia, 5th edn, Anesthesia, Miller, R. (ed.). Churchill Livingstone, New York.
17. Denborough, M.A. and Lovell, R.R.H. (1960) Anaesthetic deaths in a family. Lancet, 2, 45.
18. Denborough, M. (1998) Malignant hyperthermia. Lancet, 352, 1131-1136.
19. Larach, M.G., Localio, A.R., Allen, G.C., Denborough, M.A., Ellis, F.R., Gronert, G.A., Kaplan, R.F., Muldoon, S.M., Nelson, T.E., Ording, H. et al. (1994) A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology, 80, 771-779.
20. MacLennan, D.H. and Phillips, M.S. (1992) Malignant hyperthermia. Science, 256, 789-794.
21. Wappler, F., Fiege, M., Steinfath, M., Agarwal, K., Scholz, J., Singh, S., Matschke, J. and Schulte Am Esch, J. (2001) Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis. Anesthesiology, 94, 95-100.
22. Wingard, D.W. (1974) Letter: Malignant hyperthermia: a human stress syndrome? Lancet, 2, 1450-1451.
23. Monnier, N., Romero, N.B., Lerale, J., Landrieu, P., Nivoche, Y., Fardeau, M. and Lunardi, J. (2001) Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum. Mol. Genet., 10, 2581-2592.
24. Tilgen, N., Zorzato, F., Halliger-Keller, B., Muntoni, F., Sewry, C., Palmucci, L.M., Schneider, C., Hauser, E., Lehmann-Horn, F., Muller, C.R. and Treves, S. (2001) 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, 2879-2887.
25. 2+ release channel function and severe central core disease. Proc. Natl Acad. Sci. USA, 96, 4164-4169.
26. Girard, T., Cavagna, D., Padovan, E., Spagnoli, G., Urwyler, A., Zorzato, F. and Treves, S. (2001) B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J. Biol. Chem., 276, 48077-48082.
27. Sei, Y., Gallagher, K.L. and Basile, A.S. (1999) Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J. Biol. Chem., 274, 5995-6002.
28. O'Connell, P.J., Klyachko, V.A. and Ahern, G.P (2002) Identification of functional type 1 ryanodine receptors in mouse dendritic cells. FEBS Lett. 512, 67-70.
29. 3H]azidodantrolene by photoaffinity labeling. Biochemistry, 40, 531-542.
30. 2+ release channels. Molecular mechanism and isoform selectivity. J. Biol. Chem., 276, 13810-13816.
31. 2+ release channels (ryanodine receptors) by multiple mechanisms. J. Biol. Chem., 274, 32680-32691.
32. Treves, S., Di Virgilio, F., Cerundolo, V., Zanovello, P., Collavo, D. and Pozzan, T. (1987) Calcium and inositolphosphates in the activation of T cell-mediated cytotoxicity. J. Exp. Med., 166, 33-42.
33. Ferreiro, A., Monnier, N., Romero, N.B., Leroy, J.P., Bönnemann, C., Haenggeli, C.A., Straub, V., Voss, W.D., Nivoche, Y., Jungbluth, H. et al. (2002) 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, 750-759.
34. 2+ release channel (ryanodine receptor) activity and conductance. Biophys. J., 79, 828-840.
35. 2+ release channel (ryanodine receptor isoform 2). J. Biol. Chem., 276, 31760-31771.
36. 2+ release channel (ryanodine receptor) in ryanodine interaction. Biophys. J., 82, 2436-2447.
37. + conduction and selectivity. Science, 280; 69-77.
38. Neitzel, H. (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet., 73, 320-326.
39. 2+ release channel (ryanodine receptor). Biophys. J., 69, 106-119.
40. Treves, S., Pouliquin, P., Moccagatta, L. and Zorzato, F. (2002) Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to caffeine and 4-chloro-m-cresol. Cell Calcium, 31, 1-12.
41. Zorzato, F., Anderson, A.A., Ohlendieck, K., Froemming, G., Guerrini, R. and Treves, S. (2000) Identification of a novel 45 kDa protein (JP-45) from rabbit sarcoplasmic-reticulum junctional-face membrane. Biochem. J., 351, 537-543.
42. 2+ indicators with greatly improved fluorescence properties. J. Biol. Chem., 260, 3440-3450.