Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle characterized by muscle contracture and life-threatening hypermetabolic crisis following exposure to halogenated anesthetics and depolarizing muscle relaxants during surgery. Susceptibility to MH results from mutations in Ca2+ channel proteins that mediate excitation–contraction (EC) coupling, with the ryanodine receptor Ca2+ release channel (RyR1) representing the major locus. Here we review recent studies characterizing the effects of MH mutations on the sensitivity of the RyR1 to drugs and endogenous channel effectors including Ca2+ and calmodulin. In addition, we present a working model that incorporates these effects of MH mutations on the isolated RyR1 with their effects on the physiologic mechanism that activates Ca2+ release during EC coupling in intact muscle.
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April 01 2001
Malignant Hyperthermia: An Inherited Disorder of Skeletal Muscle Ca2+ Regulation
Charles F. Louis;
Charles F. Louis
1Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA
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Edward M. Balog;
Edward M. Balog
1Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA
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Bradley R. Fruen
Bradley R. Fruen
1Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA
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Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2001 Plenum Publishing Corporation
2001
Biosci Rep (2001) 21 (2): 155–168.
Citation
Charles F. Louis, Edward M. Balog, Bradley R. Fruen; Malignant Hyperthermia: An Inherited Disorder of Skeletal Muscle Ca2+ Regulation. Biosci Rep 1 April 2001; 21 (2): 155–168. doi: https://doi.org/10.1023/A:1013644107519
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