Novel ryanodine receptor mutation that may cause malignant hyperthermia

Anesthesiology

Volumn 109, Issue 3, 2008, Pages 457-464

  Weigl, Lukas G ^a   Kaufmann, Alexius ^b   Kraft, Birgit ^b   Michalek Sauberer, Andrea ^b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CAFFEINE; CALCIUM ION; CHLOROCRESOL; COMPLEMENTARY DNA; CYSTEINE; MESSENGER RNA; RYANODINE RECEPTOR 1; THYMINE; TRYPTOPHAN; CALCIUM; CENTRAL STIMULANT AGENT; CRESOL; HALOTHANE; INHALATION ANESTHETIC AGENT; RYANODINE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM TRANSPORT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ELECTRIC POTENTIAL; FEMALE; GENETIC ANALYSIS; HUMAN; HYPERTHERMIA; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; AUSTRIA; CELL CULTURE; CYTOLOGY; DOSE RESPONSE; DRUG EFFECT; GENETICS; MALE; MALIGNANT HYPERTHERMIA; METABOLISM; MUSCLE CELL; MUSCLE CONTRACTION; MUTATION; PATCH CLAMP; PHYSIOLOGY; SKELETAL MUSCLE;

AMINO ACID SUBSTITUTION; ANESTHETICS, INHALATION; AUSTRIA; CAFFEINE; CALCIUM; CELLS, CULTURED; CENTRAL NERVOUS SYSTEM STIMULANTS; CHILD; CRESOLS; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HALOTHANE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTION; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; PATCH-CLAMP TECHNIQUES; POLYMERASE CHAIN REACTION; RNA, MESSENGER; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 52649156433     PISSN: 00033022     EISSN: 15281175     Source Type: Journal    
DOI: 10.1097/ALN.0b013e318182a93b     Document Type: Article

References (27)

1. Rosenberg H, Davis M, James D, Pollock N, Stowell K: Malignant hyperthermia. Orphanet J Rare Dis 2007; 2:21-34
2. Davis M, Brown R, Dickson A, Horton H, James D, Laing N, Marston R, Norgate M, Perlman D, Pollock N, Stowell K: Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Br J Anaesth 2002; 88:508-15
3. Ording 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: In vitro contracture test for the diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects. Acta Anaesthesiol Scand 1997; 41: 955-66
4. Girard T, Treves S, Voronkov E, Siegmund M, Urwyler A: Molecular genetic testing for malignant hyperthermia susceptibility. ANESTHESIOLOGY 2004; 100:1076-80
5. Nelson T, Rosenberg H, Muldoon S: Genetic testing for malignant hyperthermia in North America. ANESTHESIOLOGY 2004; 100:212-4
6. Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG: Screening of the entire ryanodine receptor type
7. coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population. ANESTHESIOLOGY 2005; 102:515-21
8. Robinson R, Carpenter D, Shaw M-A, Halsall J, Hopkins P: Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006; 27:977-89
9. Monnier N, Procaccio V, Stieglitz P, Lunardi J: Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997; 60:1316-25
10. Urwyler A, Deufel T, McCarthy T, West S: Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001; 86: 283-7
11. Brinkmeier H, Mutz J, Seewald M, Melzner I, Rudel R: Specific modifications of the membrane fatty acid composition of human myotubes and their effects on the muscular sodium channels. Biochim Biophys Acta 1993; 1145:8-14
12. Baroffio A, Aubry JP, Kaelin A, Krause RM, Hamann M, Bader CR: Purification of human muscle satellite cells by flow cytometry. Muscle Nerve 1993; 16:498-505
13. McCarthy TV: Mutation screening of the ryanodine receptor gene in malignant hyperthermia, Malignant Hyperthermia. Edited by Schulte am Esch J, Scholz J, Wappler F. Lengerich, Germany, Pabst Science Publishers, 2000, pp 200-11
14. 2+ indicators with greatly improved fluorescence properties. J Biol Chem 1985; 260:3440-50
15. Thomas A, Delaville F: The use of fluorescent indicators for measurements of cytosolic free calcium concentration in cell populations and single cells, Cellular Calcium: A Practical Approach. Edited by McCormackJ, Cobbold P. New York, Oxford University Press, 1991, pp 1-54
16. Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM: A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet 2000; 9:1515-24
17. 2+ channels. J Biol Chem 1998; 273:13403-6
18. 2+ in malignant hyperthermia and central core disease. Biochem Biophys Res Com 2004; 322:1256-66
19. 2+ release channel at 14A resolution. J Mol Biol 2005; 345:427-31
20. Kobayashi S, Bannister ML, Gangopadhyay JP, Hamada T, Parness J, Ikemoto N: Dantrolene stabilizes domain interactions within the ryanodine receptor. J Biol Chem 2005; 280:6580-7
21. Bannister ML, Hamada T, MurayamaT, Harvey PJ, Casarotto MG, Dulhunty A, Ikemoto N: Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area. Biochem J 2007; 401:333-9
22. 2+ release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia. Biomed Res 1983; 4:83-92
23. Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrmann-Frank A: Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem 1997; 272:5256-60
24. Lopez JR, Alamo LA, Caputo C, Wikinski J, Ledezma D: Intracellular ionized calcium concentration in muscles from humans with malignant hyperthermia. Muscle Nerve 1985; 8:355-8
25. 2+ ]i in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR. Am J Physiol Cell Physiol 2007; 292:C1591-8
26. Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D: 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 2002; 62:135-46
27. 2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys J 2004; 87:3193-204