Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavα1S- subunit

American Journal of Physiology - Cell Physiology

Volumn 299, Issue 6, 2010, Pages

  Pirone, Antonella ^a,b,c   Schredelseker, Johann ^a   Tuluc, Petronel ^a   Gravino, Elvira ^b   Fortunato, Giuliana ^b,c   Flucher, Bernhard E ^a   Carsana, Antonella ^b,c   Salvatore, Francesco ^b,c,d   Grabner, Manfred ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^d IRCCS SDN   (Italy)

Author keywords

Caffeine induced Ca2+ release; Calcium channels; Channelopathy; Excitation contraction coupling; Skeletal muscle disease

Indexed keywords

CAFFEINE; RYANODINE RECEPTOR 1; VOLTAGE GATED CALCIUM CHANNEL;

ANIMAL CELL; ARTICLE; CALCIUM TRANSPORT; CONTROLLED STUDY; EXCITATION CONTRACTION COUPLING; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; LINKAGE ANALYSIS; MALIGNANT HYPERTHERMIA; MOUSE; MYOTUBE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SKELETAL MUSCLE;

ACTION POTENTIALS; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CAFFEINE; CALCIUM CHANNELS; CELLS, CULTURED; EXCITATION CONTRACTION COUPLING; FEMALE; GENETIC LINKAGE; GENETIC LOCI; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MICE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; POINT MUTATION; RABBITS;

EID: 78649658370     PISSN: 03636143     EISSN: 15221563     Source Type: Journal    
DOI: 10.1152/ajpcell.00008.2010     Document Type: Article

References (44)

1. Adams BA, Tanabe T, Mikami A, Numa S, Beam KG. Intramembrane charge movement restored in dysgenic skeletal muscle by injection of dihydropyridine receptor cDNAs. Nature 346: 569-572, 1990.
2. 2+ channel. J Gen Physiol 115: 467-480, 2000.
3. Bers DM. Cardiac excitation-contraction coupling. Nature 415: 198-205, 2002.
4. Caffrey JM. Kinetic properties of skeletal-muscle-like high-threshold calcium currents in a non-fusing muscle cell line. Pflügers Arch 427: 277-288, 1994.
5. Carpenter D, Ringrose1 C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet 10:104, 2009.
6. Carsana A, Fortunato G, De Sarno C, Brancadoro V, Salvatore F. Identification of new polymorphisms in the CACNA1S gene. Clin Chem Lab Med 41: 20-22, 2003.
7. Cottingham RWJ, Idury RM, Schäffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263, 1993.
8. Denborough MA, Lovell RRH. Anaesthetic deaths in a family. Lancet 276: 45, 1960.
9. Deufel T, Golla A, Iles D, Meindl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan DH, Johnson KJ, Lehmann-Horn F. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Am J Hum Genet 50: 1151-1161, 1992.
10. Dirksen RT. Bi-directional coupling between dihydropyridine receptors and ryanodine receptors. Front Biosci 7: d659-670, 2002.
11. Doyle J, Ren X, Lennon G, Stubbs L. Mutations in the CACNL1A4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome 8: 113-120, 1997. (Pubitemid 28060718)
12. Felder E, Protasi F, Hirsch R, Franzini-Armstrong C, Allen PD. Morphology and molecular composition of sarcoplasmic reticulum surface junctions in the absence of DHPR and RYR in mouse skeletal muscle. Biophys J 82: 3144-3149, 2002.
13. Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JDJ, Hawkes R, Frankel WN, Copeland NG, Jenkins NA. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87: 607-617, 1996.
14. Flucher BE, Andrews SB, Daniels MP. Molecular organization of transverse tubule/sarcoplasmic reticulum junctions during development of excitation-contraction coupling in skeletal muscle. Mol Biol Cell 5: 1105-1118, 1994.
15. Giannini G, Conti A, Mammarella S, Scrobogna M, Sorrentino V. The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol 128: 893-904, 1995.
16. 2+ channels expressed in dysgenic myotubes. Proc Natl Acad Sci USA 95: 1903-1908, 1998.
17. 2/δ subunit in current stimulation and subunit interaction. Neuron 16: 431-440, 1996.
18. 2/ δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 3: 969-975, 1994.
19. Jurkat-Rott K, McCarthy T, Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 23: 4-17, 2000.
20. 1S subunit. Arch Biochem Biophys 427: 91-100, 2004.
21. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37: 482-498, 1985.
22. Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics 14: 562-566, 1992.
23. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343: 559-561, 1990. (Pubitemid 20042716)
24. McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann- Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343: 562-564, 1990.
25. 2+ regulation defects. Physiol Rev 76: 537-592, 1996.
26. 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 60: 1316-1325, 1997.
27. Morton ME, Froehner SC. Monoclonal antibody identifies a 200-kDa subunit of the dihydropyridine-sensitive calcium channel. J Biol Chem 262: 11904-11907, 1987.
28. 2 polypeptides of the dihydropyridine- sensitive calcium channel differ in developmental expression and tissue distribution. Neuron 2: 1499-1506, 1989.
29. 1S into skeletal muscle triads. Proc Natl Acad Sci USA 95: 5015-5020, 1998.
30. 1S or excitation-contraction coupling. J Biol Chem 280: 2229-2237, 2005.
31. 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 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, 1997.
32. Powell JA, Petherbridge L, Flucher BE. Formation of triads without the dihydropyridine receptor alpha subunits in cell lines from dysgenic skeletal muscle. J Cell Biol 134: 375-387, 1996.
33. Robinson RL, Carpenter D, Shaw MA, Halsall PJ, Hopkins PM. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27: 977-989, 2006.
34. Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, Monsieurs K, Stieglitz P, Heytens L, Fricker R, van Broeckhoven C, Deufel T, Hopkins PM, Lunardi J, Mueller CR. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 6: 953-961, 1997.
35. 1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet 2: 857-862, 1993.
36. Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G, Heilinger D, Weissenbach J, Lehman-Horn F, Mueller CR, Deufel T, Stewart AD, Lunardi J. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 56: 684-691, 1995.
37. The European Malignant Hyperpyrexia Group. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56: 1267-1269, 1984.
38. 2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle. Biophys J 96: 35-44, 2009.
39. Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, Tanaka I, Niidome T, Sawada K, Nishizawa Y, Sekiguchi N, Mori E, Mori Y, Imoto K. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 273: 34857-34867, 1998.
40. V2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 277: 6960-6966, 2002.
41. Weiss RG, O'Connell KMS, Flucher BE, Allen PD, Grabner M, Dirksen RT. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 287: C1094-C1102, 2004.
42. 2+ concentration and force of contraction in mouse skeletal muscle. Cell Calcium 24: 105-115, 1998.
43. Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61: 1078-1087, 1997. (Pubitemid 27492315)
44. 2+ release. Mol Pharmacol 44: 1192-1201, 1993.