Genetic variation in RYR1 and malignant hyperthermia phenotypes

British Journal of Anaesthesia

Volumn 103, Issue 4, 2009, Pages 538-548

  Carpenter, D ^a   Robinson, R L ^a   Quinnell, R J ^b   Ringrose, C ^a   Hogg, M ^a   Casson, F ^b   Booms, P ^b   Iles, D E ^b   Halsall, P J ^a   Steele, D S ^b   Shaw, M A ^b   Hopkins, P M ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Enzymes, creatine kinase; Genetic factors, hyperthermia; Malignant hyperthermia, diagnosis; Phenotype; Ryanodine receptor calcium release channel, genetics

Indexed keywords

CREATINE KINASE; RYANODINE RECEPTOR 1; CAFFEINE; COMPLEMENTARY DNA; HALOTHANE; INHALATION ANESTHETIC AGENT; PHOSPHODIESTERASE INHIBITOR; RYANODINE RECEPTOR;

ARTICLE; CREATINE KINASE BLOOD LEVEL; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEAT STROKE; HUMAN; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTURE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; BLOOD; DRUG EFFECT; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MALE; METHODOLOGY; MUSCLE CONTRACTION; MUTATION; PATHOPHYSIOLOGY; TISSUE CULTURE TECHNIQUE;

ANESTHETICS, INHALATION; CAFFEINE; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HALOTHANE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTION; MUTATION; PHENOTYPE; PHOSPHODIESTERASE INHIBITORS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TISSUE CULTURE TECHNIQUES;

EID: 70350459096     PISSN: 00070912     EISSN: 14716771     Source Type: Journal    
DOI: 10.1093/bja/aep204     Document Type: Article

References (37)

1. Kalow W, Britt BA, Terreau ME, Haist C. Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet 1970; 2: 895-898
2. Ellis FR, Harriman DGF, Keaney NP, Kyei-Mensah K, Tyrrell JH. Halothane induced muscle contracture as a cause of hyperpyrexia. Br J Anaesth 1971; 43: 721-722
3. 2+ regulation defects. Physiol Rev 1996; 76: 537-592
4. Robinson RL, Curran JL, Hall WJ, et al. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families. J Med Genet 1998; 35: 196-201
5. Robinson RL, Carpenter D, Shaw M-A, Halsall J, Hopkins PM. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mut 2006; 27: 977-989
6. Yang T, Ta TA, Pessah IN, Allen PD. Functional defects in ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem 2003; 278: 25722-25730
7. Curran JL, Hall WJ, Halsall PJ, et al. Segregation of malignant hyperthermia, central core disease and chromosome 19 markers. Br J Anaesth 1999; 83: 217-222
8. Hopkins PM. Malignant hyperthermia: advances in clinical management and diagnosis. Br J Anaesth 2000; 85: 118-128
9. Robinson RL, Brooks C, Brown Sl, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mut 2002; 20: 88-97
10. Rossi AE, Dirksen RT. Sarcoplasmic reticulum: the dynamic calcium governer of muscle. Muscle Nerve 2006; 33: 715-731
11. Weglinski MR, Wedel DJ, Engel AG. Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels. Anesth Analg 1997; 84: 1038-1041
12. Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular detection of susceptibility to MH. Br J Anaesth 2001; 86: 161-326
13. Hopkins PM, Hartung E, Wappler F, European Malignant Hyperthermia Group. Multi-centre evaluation or ryanodine contracture testing in malignant hyperthermia. Br J Anaesth 1998; 80: 389-394
14. Monnier N, Kosak-Ribbens G, Krivosic-Horber R, et al. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mut 2005; 26: 413-425
15. McWilliams S, Nelson T, Sudo R, et al. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet 2002; 62: 80-83
16. Brown RL, Pollock AN, Couchman KG, et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet 2000; 9: 1515-1524
17. Jungbluth H, Muller CR, Halliger-Keller B, et al. Autosomal recessive inheritance of RYR1 mutations in congenital myopathy with cores. Neurology 2002; 59: 284-287
18. Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrmann-Frank A. Functional characterisation of a distinct ryanodine receptor mutation in human malignant hyperthermiasusceptible muscle. J Biol Chem 1997; 272: 5256-5260
19. Fiege M, Wappler F, Weisshorn R, Gerbershagen M, Steinfath M, Schulte Am Esch J. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. Anesthesiology 2002; 97: 345-350
20. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem 1997; 272: 26332-26339
21. Ellis FR, Halsall PJ, Christian AS. Clinical presentation of suspected malignant hyperthermia during anaesthesia in 402 probands. Anaesthesia 1990; 45: 838-841
22. Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994; 80: 771-779
23. Robinson RL, Anetseder MJ, Brancadoro V, et al. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? Eur J Hum Genet 2003; 11: 342-348
24. Robinson RL, Curran JL, Ellis FR, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet 2000; 64: 307-320
25. Robinson R, Hopkins PM, Carsana A, et al. Several interacting genes influence the malignant hyperthermia phenotype. Hum Genet 2003; 112: 217-218
26. Manning BM, Quane KA, Ording H, et al. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998; 62: 599-609
27. Britt BA, Endrenyi L, Peters PL, Kwong FH, Kadijevic L. Screening of malignant hyperthermia susceptible families by creatine phoszphokinase measurement and other clinical investigations. Can Anaesth Soc J 1976; 23: 263-284
28. Ellis FR, Halsall PJ, Harriman DGF. The work of the Leeds Malignant Hyperpyrexia Unit, 1971-1984. Anaesthesia 1986; 41: 809-815
29. Wappler F, Fiege M, Steinfath M, et al. Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis. Anesthesiology 2001; 94: 95-100
30. Tobin JR, Jason DR, Nelson TE, Sambuughin N. Malignant hyperthermia and apparent heat stroke. J Am Med Assoc 2001; 286: 168-169
31. 2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys J 2004; 87: 3193-3204
32. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterisation of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 69-74
33. George CH, Jundi H, Thomas L, Fry DL, Lai AF. Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies. J Mol Cell Cardiol 2007; 42: 34-50
34. El-Hayek R, Saiki Y, Yamamoto T, Ikemoto N. A postulated role of the near amino-terminal domain of the ryanodine receptor in the regulation of the sarcoplasmic reticulum Ca2+ channel. J Biol Chem 1999; 274: 33341-33347
35. 2+ channel regulation. J Biol Chem 2000; 275: 11618-11625 (Pubitemid 30237720)
36. 2+ channel regulation by interdomain interaction within the ryanodine receptor. Biochem J 2004; 380: 561-569
37. Dulhunty AF, Pouliquin P. What we don't know about the structure of ryanodine receptor calcium release channels. Clin Exp Pharmacol Physiol 2003; 30: 713-723