Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes
We have investigated if cultivated muscle cells from malignant hyperthermia (MH) patients can be distinguished pharmacologically from controls. Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYRI) and from four controls were...
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| Veröffentlicht in: | British journal of anaesthesia : BJA 1999-12, Vol.83 (6), p.855-861 |
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| container_title | British journal of anaesthesia : BJA |
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| creator | Brinkmeier, H. Krämer, J. Krämer, R. Iaizzo, P.A. Baur, C. Lehmann-Horn, F. Rüdel, R. |
| description | We have investigated if cultivated muscle cells from malignant hyperthermia (MH) patients can be distinguished pharmacologically from controls. Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYRI) and from four controls were used to culture myotubes. Resting intracellular calcium concentration ([Ca2++]i) of MH myotubes was similar to controls. However, when ryanodine 0.5 μmol litre−1 was added, the kinetics of the increase in the calcium signals in MH and control cells were significantly different; the time for half maximum increase was mean 197 (SD 131) s for MH cells and 474 (61) s for controls (n = 80 cells each). On average, the area under the MH response curves was twice the control value. These results give rise to hopes that the phenotype of MH can be characterized using cultured human muscle and that a culture-based test for MH susceptibility may eventually be developed. |
| doi_str_mv | 10.1093/bja/83.6.855 |
| format | Article |
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Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYRI) and from four controls were used to culture myotubes. Resting intracellular calcium concentration ([Ca2++]i) of MH myotubes was similar to controls. However, when ryanodine 0.5 μmol litre−1 was added, the kinetics of the increase in the calcium signals in MH and control cells were significantly different; the time for half maximum increase was mean 197 (SD 131) s for MH cells and 474 (61) s for controls (n = 80 cells each). On average, the area under the MH response curves was twice the control value. These results give rise to hopes that the phenotype of MH can be characterized using cultured human muscle and that a culture-based test for MH susceptibility may eventually be developed.</description><identifier>ISSN: 0007-0912</identifier><identifier>EISSN: 1471-6771</identifier><identifier>DOI: 10.1093/bja/83.6.855</identifier><identifier>PMID: 10700782</identifier><identifier>CODEN: BJANAD</identifier><language>eng</language><publisher>Oxford: Elsevier Ltd</publisher><subject>Adolescent ; Adult ; Anesthesia ; Anesthesia, Inhalation - adverse effects ; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; calcium ; Calcium - metabolism ; Cells, Cultured ; culture ; General anesthesia. Technics. Complications. Neuromuscular blocking. Premedication. Surgical preparation. Sedation ; Hot Temperature ; Humans ; ions ; ions, calcium ; malignant hyperthermia ; Malignant Hyperthermia - genetics ; Medical sciences ; Middle Aged ; muscle skeletal ; muscle skeletal, culture ; Muscle, Skeletal - drug effects ; Muscle, Skeletal - metabolism ; Point Mutation ; receptors ; receptors, ryanodine ; ryanodine ; Ryanodine - pharmacology ; Ryanodine Receptor Calcium Release Channel - genetics</subject><ispartof>British journal of anaesthesia : BJA, 1999-12, Vol.83 (6), p.855-861</ispartof><rights>1999 British Journal of Anaesthesia</rights><rights>1999 Oxford University Press 1999</rights><rights>2000 INIST-CNRS</rights><rights>Copyright British Medical Association Dec 1999</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-226ba53e364bd5c42da72d39431bc0394241da181e9a6ec436830ce83f4f8d6a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1185865$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10700782$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brinkmeier, H.</creatorcontrib><creatorcontrib>Krämer, J.</creatorcontrib><creatorcontrib>Krämer, R.</creatorcontrib><creatorcontrib>Iaizzo, P.A.</creatorcontrib><creatorcontrib>Baur, C.</creatorcontrib><creatorcontrib>Lehmann-Horn, F.</creatorcontrib><creatorcontrib>Rüdel, R.</creatorcontrib><title>Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes</title><title>British journal of anaesthesia : BJA</title><addtitle>Br. J. Anaesth</addtitle><addtitle>Br. J. Anaesth</addtitle><description>We have investigated if cultivated muscle cells from malignant hyperthermia (MH) patients can be distinguished pharmacologically from controls. Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYRI) and from four controls were used to culture myotubes. Resting intracellular calcium concentration ([Ca2++]i) of MH myotubes was similar to controls. However, when ryanodine 0.5 μmol litre−1 was added, the kinetics of the increase in the calcium signals in MH and control cells were significantly different; the time for half maximum increase was mean 197 (SD 131) s for MH cells and 474 (61) s for controls (n = 80 cells each). On average, the area under the MH response curves was twice the control value. These results give rise to hopes that the phenotype of MH can be characterized using cultured human muscle and that a culture-based test for MH susceptibility may eventually be developed.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Anesthesia</subject><subject>Anesthesia, Inhalation - adverse effects</subject><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>calcium</subject><subject>Calcium - metabolism</subject><subject>Cells, Cultured</subject><subject>culture</subject><subject>General anesthesia. Technics. Complications. Neuromuscular blocking. Premedication. Surgical preparation. Sedation</subject><subject>Hot Temperature</subject><subject>Humans</subject><subject>ions</subject><subject>ions, calcium</subject><subject>malignant hyperthermia</subject><subject>Malignant Hyperthermia - genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>muscle skeletal</subject><subject>muscle skeletal, culture</subject><subject>Muscle, Skeletal - drug effects</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Point Mutation</subject><subject>receptors</subject><subject>receptors, ryanodine</subject><subject>ryanodine</subject><subject>Ryanodine - pharmacology</subject><subject>Ryanodine Receptor Calcium Release Channel - genetics</subject><issn>0007-0912</issn><issn>1471-6771</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0d9rFDEQB_Agir1W33yWRURf3Gt-bZJ9LFWvQkUFheJLyGZnrzl3kzPZLe4_4N9tyh5WRPBpAvNhJswXoScErwmu2WmzM6eKrcVaVdU9tCJcklJISe6jFcZYlrgm9Agdp7TDmEhaVw_REcEytxRdoZ_vTe-23vixuJ73EMdriIMzhTVTcn5bbPqZcladxW0xTKMZXfBF6IrMijgbH1rn8wss7McQi85Y17vMIN21S-fbyUKbZ_bWTUPmPZgEhfPFMIdxaiA9Qg860yd4fKgn6MvbN5_PL8rLD5t352eXpeW1GktKRWMqBkzwpq0sp62RtGU1Z6SxOFfKSWuIIlAbAZYzoRi2oFjHO9UKw07Qi2XuPobvE6RRDy5Z6HvjIUxJi5rzfC-e4bO_4C5M0ee_aVJLyUTFSEavFmRjSClCp_fRDSbOmmB9G47O4WjFtNA5nMyfHmZOzQDtH3hJI4PnB2BSPlYXjbcu3TmiKiVu57xcWJj2_9tYLtKlEX78tiZ-00IyWemLq6-aX32i_CPe6NfZi8VDzuDGQdTJOvA5PJczHnUb3L8X_QLYisct</recordid><startdate>19991201</startdate><enddate>19991201</enddate><creator>Brinkmeier, H.</creator><creator>Krämer, J.</creator><creator>Krämer, R.</creator><creator>Iaizzo, P.A.</creator><creator>Baur, C.</creator><creator>Lehmann-Horn, F.</creator><creator>Rüdel, R.</creator><general>Elsevier Ltd</general><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>6I.</scope><scope>AAFTH</scope><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>19991201</creationdate><title>Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes</title><author>Brinkmeier, H. ; Krämer, J. ; Krämer, R. ; Iaizzo, P.A. ; Baur, C. ; Lehmann-Horn, F. ; Rüdel, R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-226ba53e364bd5c42da72d39431bc0394241da181e9a6ec436830ce83f4f8d6a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Anesthesia</topic><topic>Anesthesia, Inhalation - adverse effects</topic><topic>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Biological and medical sciences</topic><topic>calcium</topic><topic>Calcium - metabolism</topic><topic>Cells, Cultured</topic><topic>culture</topic><topic>General anesthesia. Technics. Complications. Neuromuscular blocking. Premedication. Surgical preparation. Sedation</topic><topic>Hot Temperature</topic><topic>Humans</topic><topic>ions</topic><topic>ions, calcium</topic><topic>malignant hyperthermia</topic><topic>Malignant Hyperthermia - genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>muscle skeletal</topic><topic>muscle skeletal, culture</topic><topic>Muscle, Skeletal - drug effects</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Point Mutation</topic><topic>receptors</topic><topic>receptors, ryanodine</topic><topic>ryanodine</topic><topic>Ryanodine - pharmacology</topic><topic>Ryanodine Receptor Calcium Release Channel - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brinkmeier, H.</creatorcontrib><creatorcontrib>Krämer, J.</creatorcontrib><creatorcontrib>Krämer, R.</creatorcontrib><creatorcontrib>Iaizzo, P.A.</creatorcontrib><creatorcontrib>Baur, C.</creatorcontrib><creatorcontrib>Lehmann-Horn, F.</creatorcontrib><creatorcontrib>Rüdel, R.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of anaesthesia : BJA</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brinkmeier, H.</au><au>Krämer, J.</au><au>Krämer, R.</au><au>Iaizzo, P.A.</au><au>Baur, C.</au><au>Lehmann-Horn, F.</au><au>Rüdel, R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes</atitle><jtitle>British journal of anaesthesia : BJA</jtitle><stitle>Br. J. Anaesth</stitle><addtitle>Br. J. Anaesth</addtitle><date>1999-12-01</date><risdate>1999</risdate><volume>83</volume><issue>6</issue><spage>855</spage><epage>861</epage><pages>855-861</pages><issn>0007-0912</issn><eissn>1471-6771</eissn><coden>BJANAD</coden><abstract>We have investigated if cultivated muscle cells from malignant hyperthermia (MH) patients can be distinguished pharmacologically from controls. Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYRI) and from four controls were used to culture myotubes. Resting intracellular calcium concentration ([Ca2++]i) of MH myotubes was similar to controls. However, when ryanodine 0.5 μmol litre−1 was added, the kinetics of the increase in the calcium signals in MH and control cells were significantly different; the time for half maximum increase was mean 197 (SD 131) s for MH cells and 474 (61) s for controls (n = 80 cells each). On average, the area under the MH response curves was twice the control value. These results give rise to hopes that the phenotype of MH can be characterized using cultured human muscle and that a culture-based test for MH susceptibility may eventually be developed.</abstract><cop>Oxford</cop><pub>Elsevier Ltd</pub><pmid>10700782</pmid><doi>10.1093/bja/83.6.855</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Anesthesia Anesthesia, Inhalation - adverse effects Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences calcium Calcium - metabolism Cells, Cultured culture General anesthesia. Technics. Complications. Neuromuscular blocking. Premedication. Surgical preparation. Sedation Hot Temperature Humans ions ions, calcium malignant hyperthermia Malignant Hyperthermia - genetics Medical sciences Middle Aged muscle skeletal muscle skeletal, culture Muscle, Skeletal - drug effects Muscle, Skeletal - metabolism Point Mutation receptors receptors, ryanodine ryanodine Ryanodine - pharmacology Ryanodine Receptor Calcium Release Channel - genetics |
| title | Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes |
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