Malignant Hyperthermia
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Scientists at University of Lund publish new data on malignant hyperthermia
2009 JUN 1 - (NewsRx.com) -- "Malignant hyperthermia (MH), linked to the ryanodine receptor 1 gene (RYR1) on chromosome 19, is a potentially lethal pharmacogenetic disorder which may lead to a disturbance of intracellular calcium homeostasis when susceptible individuals are exposed to halogenated anaesthetics, suxamethonium, or both. Central core disease (CCD) is a rare dominantly inherited congenital myopathy allelic to MH-susceptibility," scientists writing in the British Journal of Anaesthesia report. "In this study, 14 unrelated MH-susceptible probands and one CCD patient from Sweden were screened for mutations in the RYR1. Since the RYR1 is also expressed in B-lymphocytes, RYR1-cDNA was transcribed from total RNA extracted from white blood cells. We detected two known RYR1 mutations and two previously described unclassified sequence variants. In addition, six novel sequence variants were detected. All mutations or sequence variants were verified on genomic DNA. Seven of the probands did not show any candidate mutation, although the total coding region of RYR1 was sequenced. Segregation data in in vitro contracture tested family members of three probands support a causative role of three of the novel sequence variants," wrote M. Broman and colleagues, University of Lund. The researchers concluded: "Our study contributes to the genetic aetiology of MH in Sweden, but also raises questions about the involvement of genes other than RYR1 since nearly half of the probands did not show any sequence variants in the total coding region of the RYR1." Broman and colleagues published their study in British Journal of Anaesthesia (Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. British Journal of Anaesthesia, 2009;102(5):642-649). Additional information can be obtained by contacting M. Broman, University of Lund Hospital, Dept. of Anesthesiology & Intensive Care, S-22185 Lund, Sweden. The publisher of the British Journal of Anaesthesia can be contacted at: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: Sweden, Lund, Anesthesia, Congenital Myopathy, Drugs, Genetics, Malignant Hyperthermia, Myopathy, Pain Medicine, Pharmaceuticals, Pharmacogenetics, Therapies, University of Lund. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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