The point mutation Arg615→cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
作者： K. Otsu , K. Nishida , Y. Kimura , T. Kuzuya , M. Hori
DOI: 10.1016/S0021-9258(17)36895-3
关键词:
摘要: Malignant hyperthermia (MH) is an autosomal dominant myopathy. Molecular genetic studies have shown that the alteration of Arg615 to Cys in Ca2+ release channel skeletal muscle sarcoplasmic reticulum (ryanodine receptor) cosegregated with porcine MH (Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. Weiler, J. E., O'Brien, P. and MacLennan, D. H. (1991) Science 253, 448-451; Archibald, A., Genomics 11, 744-750). Here, using fluorescence calcium indicator indo-1, we determined concentration ionized cytosolic myoblastic cells transfected either wild-type or mutated ryanodine receptor cDNA. The expressing mutant showed higher sensitivity caffeine, which induces from through receptor. Exposure clinical doses halothane resulted a rapid increase [Ca2+]i receptor, whereas no [Ca2+] changes were observed These results provide definite evidence single amino acid mutation, Arg615-->Cys, causative MH.
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