Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Human Mutation

Volumn 30, Issue 4, 2009, Pages

  Zullo, Alberto ^a,b,c   Klingler, Werner ^c   De Sarno, Claudia ^a,b   Ferrara, Marina ^a,b   Fortunato, Giuliana ^a,b   Perrotta, Giuseppa ^a,b   Gravino, Elvira ^b   Noto, Rosella Di ^a,b   Lehmann Horn, Frank ^c   Melzer, Werner ^c   Salvatore, Francesco ^a,b,d   Carsana, Antonella ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF ULM   (Germany)

^d Clinica Pineta Grande   (Italy)

Author keywords

B lymphocytes; Calcium channel; Malignant hyperthermia; Proton release

Indexed keywords

ARGININE; CHLOROCRESOL; CYCLOPIAZONIC ACID; DANTROLENE; GLUTAMINE; GLYCINE; HISTIDINE; PROLINE; RYANODINE RECEPTOR 1; SERINE; THAPSIGARGIN;

ACIDIFICATION; ARTICLE; B LYMPHOCYTE; CELL IMMORTALIZATION; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA POLYMORPHISM; GENE ACTIVATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MALIGNANT HYPERTHERMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

B-LYMPHOCYTES; CELL LINE, TRANSFORMED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CRESOLS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR SPACE; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENETIC VARIATION; HUMANS; HYDROGEN-ION CONCENTRATION; MALE; MALIGNANT HYPERTHERMIA; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; POLYMORPHISM, GENETIC; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 63749092250     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20991     Document Type: Article

References (47)

1. Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM. 2008. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology 108:208-215.
2. Anetseder M, Hager M, Müller CR, Roewer N. 2002. Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. Lancet 359:1579-1580.
3. Anetseder M, Hager M, Müller-Reible C, Roewer N. 2003. Regional lactate and carbon dioxide concentrations in a metabolic test for malignant hyperthermia. Lancet 362:494.
4. Bina S, Cowan G, Karaian J, Muldoon S, Mongan P, Bunger R. 2006. Effects of caffeine, halothane, and 4-chloro-m-cresol on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis. Anesthesiology 104:90-100.
5. 2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutation. J Biol Chem 280:15380-15389.
6. Brinkmeier H, Krämer J, Krämer R, Iaizzo A, Baur C, Lehmann-Horn F, Rüdel R. 1999. Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes. Br J Anaesth 83:855-61.
7. Censier K, Urwyler A, Zorzato F, Treves S. 1998. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia- susceptible and normal individuals. J Clin Invest 101:1233-42.
8. Ducreux S, Zorzato F, Muller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S. 2004. Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. J Biol Chem 279:43838-43846.
9. 2+ regulation by the sarcoplasmic reticulum in saponin-permeabilized skeletal muscle fibres. Pflugers Arch 436:104-111.
10. European Malignant Hyperpyrexia Group 1984. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267-1269.
11. Fortunato G, Berruti R, Brancadoro V, Fattore M, Salvatore F, Carsana A. 2000. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family. Eur J Hum Genet 8:149-152.
12. Fortunato G, Carsana A, Tinto N, Brancadoro V, Canfora G, Salvatore F. 1999. A case of discordance between genotype and phenotype in a malignant hyperthermia family. Eur J Hum Genet 7:415-420.
13. Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V. 2006. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat 27:830.
14. Girard T, Cavagna D, Padovan E, Spagnoli G, Urwyler A, Zorzato F, 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.
15. Girard T, Treves S, Censier K, Mueller CR, Zorzato F, Urwyler A. 2002. Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human muscle cells. Br J Anaesth 89:571-579.
16. Herrmann-Frank A, Richter M, Sarkozi S, Mohr U, Lehmann-Horn F. 1996. 4-Chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor. Biochim Biophys Acta 1289:31-40.
17. Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F. 2007. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 17:338-345.
18. Klingler W, Baur C, Georgieff M, Lehmann-Horn F, Melzer W. 2002. Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility. Anaesthesiology 97:1059-1066.
19. Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M. 2007. Central core disease due to recessive mutations in RYR1 gene: Is it more common than described? Muscle Nerve 35:670-674.
20. Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT. 2007. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Hum Mutat 28:61-68.
21. 2+ release channel function and severe central core disease. Proc Natl Acad Sci U S A 96:4164-4169.
22. Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. 2005. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat 26:413-425.
23. Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. 2008. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 29:670-678.
24. Neitzel, H. 1986. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326.
25. Ø0rding H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, Halsall PJ, Hartung E, Heffron JJ, Heytens L, Kozak-Ribbens G, Kress H, Krivosic-Horber R, Lehmann-Horn F, Mortier W, Nivoche Y, Ranklev-Twetman E, Sigurdsson S, Snoeck M, Stieglitz P, Tegazzin V, Urwyler A, Wappler F. 1997. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 41:955-966.
26. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. 2006. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27:977-989.
27. Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier1 N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR. 2003. Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? Eur J Hum Genet 11:342-348.
28. Rossi D, Murayama T, Manini I, Franci D, Ogawa Y, Sorrentino V. 2007. Expression and functional activity of ryanodine receptors (RyRs) during skeletal muscle development. Cell Calcium 41:573-580.
29. Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG. 2001. Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromus Disord 11:530-537.
30. Sato I, Wu S, Ibarra MCA, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I. 2008. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 70:114-122.
31. Sei Y, Brandom BW, Bina S, Hosoi E, Gallagher KL, Wyre HW, Pudimat PA, Holman SJ, Venzon DJ, Daly JW, Muldoon S. 2002. Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes. Anaesthesiology 97:1052-1058.
32. Sei Y, Gallagher KL, Basile AS. 1999. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem 274:5995-6002.
33. Textor Z, Beer M, Anetseder M, Kostler H, Kagerbauer E, Kenn W, Hahn D, Roewer N 2003. Caffeine impairs intramuscular energy balance in patients susceptible to malignant hyperthermia. Muscle Nerve 28:353-358.
34. 2+-ATPase. Proc Natl Acad Sci USA 87:2466-2470.
35. Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-horn F, Müller CR, 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.
36. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. Biochemistry 272:26332-26339.
37. Treves S, Jungbluth H, Muntoni F, Zorzato F 2008. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 8:319-326.
38. Urwyler A, Deufel T, McCarthy T, West S. 2001. European Malignant Hyperthermia Group: Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 86:283-287.
39. Von der Hagen M, Kress W, Hahn G, Brocke K, Mitzscherling P, Huebner A, M̈ller-Reible C, Stoltenburg-Didinger G, Kaindl AM. 2008. Novel RYR1 missense mutation causes cone rod myopathy. Eur J Neurol 15:e31-e32.
40. Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D. 2002. Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from MHS-individuals carrying the RyR1 Thr2206Met (C6617T) mutation. Clin Genet 62:135-146.
41. Wehner M, Rueffert H, Koenig F, Olthoff D. 2004. Functional characterization of malignant hyperthermia-associated RYR1 mutations in exon 44, using the human myotube model. Neuromus Disord 14:429-437.
42. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mut 29:6-13.
43. Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. 2006. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 129:1470-1480.
44. Yang T, Ta TA, Pessah IN, Allen PD. 2003. Functional defects in six RYR1 mutations associated with malignant hyperthermia and their impact on skeletal E-C coupling. J Biol Chem 278:25722-25730.
45. Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S. 2006. Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet 15:2791-2803.
46. Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina R, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. 2007. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 130:2024-2036.
47. 2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem 265:2244-2256.