Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees |
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| Authors: | Keating, Katherine E. Quane, Kathleen A. Manning, Bernadette M. Lehane, Mary Hartung, Edmund Censier, Kathrin Urwyler, Albert Klausnitzer, Monika Muller, Clemens R. Heffron, James J.A. McCarthy, Tommie V. |
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| Affiliation: | Department of Biochemistry, University College Cork, Ireland 1Department of Anaesthesia, University College Cork, Ireland 2Institute for Anaesthesiology Josef Schneider Str 2, D-97080 Wurzburg, Germany 3Department of Anaesthesia and Research, University Hospital CH-4031 Basel, Switzerland 4Department of Human Genetics, University of Wurzburg Biozentrum Am Hubland, D-97074 Wurzburg, Germany |
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| Abstract: | Malignant hyperthermia (MH) is a potentially fatal autosomaldominant disorder of skeletal muscle and is triggered in susceptiblepeople by all commonly used inhalational anaesthetics and depolarizingmuscle relaxants. To date, six mutations in the skeletal muscleryanodine receptor gene (RYR1) have been identified in malignanthyperthermia susceptible (MHS) and central core disease (CCD)cases. Using SSCP analysis, we have screened the RYR1 gene inaffected individuals for novel MHS mutations and have identifieda G to A transition mutation which results in the replacementof a conserved Gly at position 2433 with an Arg. The Gly2433Argmutation was present in four of 104 unrelated MHS individualsinvestigated and was not detected in a normal population sample.This mutation is adjacent to the previously identified Arg2434Hismutation reported in a CCD/MH family and indicates that theremay be a second region in the RYR1 gene where MHS/CCD mutationscluster. |
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