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(Received for publication, July 17, 1997)
From the Malignant hyperthermia (MH) and central
core disease (CCD) are autosomal dominant disorders of skeletal muscle
in which a potentially fatal hypermetabolic crisis can be triggered by
commonly used anesthetic agents. To date, 17 mutations in the human
RYR1 gene encoding the Ca2+ release channel of
skeletal muscle sarcoplasmic reticulum (the ryanodine receptor) have
been associated with MH and/or CCD. Although many of these mutations
have been linked to MH and/or CCD, with high lod (log of the odds
favoring linkage versus nonlinkage) scores, others have been found in
single, small families. Independent biochemical evidence for a causal
role for these mutations in MH is available for only two mutants.
Mutations corresponding to the human MH mutations were made in a
full-length rabbit RYR1 cDNA, and wild type and mutant
cDNAs were transfected into HEK-293 cells. After about 48 h,
intact cells were loaded with the fluorescent Ca2+
indicator, fura-2, and intracellular Ca2+ release, induced
by caffeine or halothane, was measured by photometry. Ca2+
release in cells expressing MH or CCD mutant ryanodine receptors was
invariably significantly more sensitive to low concentrations of
caffeine and halothane than Ca2+ release in cells
expressing wild type receptors or receptors mutated in other regions of
the molecule. Linear regression analysis showed that there is a strong
correlation (r = 0.95, p < 0.001) between caffeine sensitivity of different RYR1 mutants
measured by the cellular Ca2+ photometry assay and by the
clinical in vitro caffeine halothane contracture test
(IVCT). The correlation was weaker, however, for halothane
(r = 0.49, p > 0.05). Abnormal
sensitivity in the Ca2+ photometry assay provides
supporting evidence for a causal role in MH for each of 15 single amino
acid mutations in the ryanodine receptor. The study demonstrates the
usefulness of the cellular Ca2+ photometry assay in the
assessment of the sensitivity to caffeine and halothane of specific
ryanodine receptor mutants.
Volume 272, Number 42,
Issue of October 17, 1997
pp. 26332-26339
©1997 by The American Society for Biochemistry and Molecular Biology, Inc.
Caffeine and Halothane Sensitivity of Intracellular
Ca2+ Release Is Altered by 15 Calcium Release Channel
(Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia
and/or Central Core Disease
§
,
,
and§
Banting and Best Department of Medical
Research, University of Toronto, Charles H. Best Institute, Toronto,
Ontario M5G 1L6, Canada, the § Department of Biochemistry,
University of Toronto, Medical Sciences Building, Toronto, Ontario M6S
1A1, Canada, the ** Division of Cell Biology, The Research Institute,
Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada, and the
Department of Biochemistry, University
College, Cork, Ireland
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