<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Malignant hyperthermia (MH) is a rare pharmacogenetic disorder with an autosomal dominant inheritance that presents as a hypermetabolic response in skeletal muscle to volatile anaesthetic (halothane, isoflurane, desflurane, sevoflurane) and the depolarising muscle relaxant succinil-choline and rarely to stresses such as vigorous exercise and heat. We investigated the relatives of an individual with suspected MH and found a novel mutation in <italic>RYR1</italic> gene. The molecular analysis of <italic>RYR1</italic> gene revealed a novel nucleotide substitution in exon 6 - G528T (Glu-176-Asp) in four family members of the patient. The <italic>in vitro</italic> contracture test (IVCT) according to the European Malignant Hyperthermia Group (EMHG) guidelines showed a MH susceptible phenotype in two tested family members.</p></abstract>

Malignant hyperthermia (MH) is a rare pharmacogenetic disorder with an autosomal dominant inheritance that presents as a hypermetabolic response in skeletal muscle to volatile anaesthetic (halothane, isoflurane, desflurane, sevoflurane) and the depolarising muscle relaxant succinil-choline and rarely to stresses such as vigorous exercise and heat. We investigated the relatives of an individual with suspected MH and found a novel mutation in RYR1 gene. The molecular analysis of RYR1 gene revealed a novel nucleotide substitution in exon 6 - G528T (Glu-176-Asp) in four family members of the patient. The in vitro contracture test (IVCT) according to the European Malignant Hyperthermia Group (EMHG) guidelines showed a MH susceptible phenotype in two tested family members.

Identification of A Novel Mutation in <italic>RYR1</italic> Gene in Malignant Hyperthermia-Like Patient's Family Members

Latvian Maritime Medicine Centre, University of Latvia, Patversmes iela 23, Rīga, LV-1005, LATVIA

University Children's Hospital, Juglas iela 20, LV-1079, Rīga, LATVIA

University Hospital, Leipzig, Liebigstrasse 22a, Leipzig, 04103, GERMANY

Faculty of Medicine, University of Latvia, Patversmes iela 23, LV-1005, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

Identification of A Novel Mutation in  Gene in Malignant Hyperthermia-Like Patient's Family Members

Malignant hyperthermia (MH) is a rare pharmacogenetic disorder with an autosomal dominant inheritance that presents as a hypermetabolic response in skeletal...

Identification of A Novel Mutation in RYR1 Gene in Malignant Hyperthermia-Like Patient's Family Members

Publié en ligne: 29 nov. 2008

Pages: 156 - 161

DOI: https://doi.org/10.2478/v10046-008-0025-y

Mots clés
malignant hyperthermia, mutation in RYR1 gene, IVCT, anaesthesia, complications

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