Novel ryanodine receptor mutation that may cause malignant hyperthermia

Anesthesiology
Alexius KaufmannLukas G Weigl

Abstract

Malignant hyperthermia (MH) is a hypermetabolic condition caused by a genetic disposition leading to increased Ca release from the sarcoplasmic reticulum after exposure to triggering agents. In the authors' ongoing evaluation of patients undergoing MH testing in Austria, they detected a family with a new variant of the ryanodine receptor 1. Guidelines suggest that genetic tests are possible only for individuals from families in which the mutations are known. The aim of this study was to provide functional data that establish a potential link between this new variant and susceptibility to MH, and thus enable application in genetic tests. Messenger RNA was isolated from skeletal muscle cells grown in culture and used for synthesis of complementary DNA, which served as a template for 23 polymerase chain reactions. The sequences of all reaction products were analyzed. Functional studies in differentiated muscle cells included the Ca releasing activity of caffeine and 4-chloro-m-cresol. The authors measured the intracellular Ca concentration and, in combined patch clamp-Ca detection experiments, the voltage dependence of the Ca release. In a single family, the authors found a transition from a highly conserved thymine to cysteine at...Continue Reading

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Citations

Aug 18, 2009·Journal of Anesthesia·Takako MigitaMasashi Kawamoto
Dec 24, 2011·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Shiro ImagamaNaoki Ishiguro
Mar 15, 2012·Anesthesia and Analgesia·Alexius KaufmannLukas G Weigl
Jun 26, 2009·PloS One·Kimberly HendersonCurtis D Eckhert
Apr 7, 2012·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Caterina LacavaLukas G Weigl
Mar 31, 2018·Mini Reviews in Medicinal Chemistry·Zhiqiang Sun, Hui Xu
Apr 14, 2011·Anaesthesia and Intensive Care·M KobayashiO Yuge
Sep 19, 2021·Acta Neuropathologica Communications·Valérie BiancalanaJohann Böhm

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