Abstract:
PURPOSE:This study aimed to evaluate whether the three ryanodine receptor type 1 (RYR1) variants (p.Ser2345Thr, p.Ser2345Arg, and p.Lys3367Arg) which we identified in Japanese malignant hyperthermia (MH) patients with a clinical grading scale rank of 6 were causative for MH. METHODS:We prepared human embryonic kidney (HEK)-293 cells transfected with wild-type RYR1 or one of the RYR1 variants, along with myotubes cultured from muscle pieces. Calcium kinetics were examined by calculating the 340/380-nm ratio under various caffeine and 4-chloro-m-cresol (4CmC) concentrations with the ratiometric dye Fura-2 AM. Half-maximal effective concentration (EC50) values were calculated from dose-response curves. Statistical analysis was based on one-way analysis of variance with a Dunnett's multiple comparison test, using a P value < 0.05 as evidence of statistical significance. RESULTS:In functional analysis using HEK-293 cells, we found significant reductions in the EC50 of p.Ser2345Thr and p.Ser2345Arg in comparison with wild-type RYR1 (P < 0.001), while the EC50 of p.Lys3367Arg was not significantly different (P = 0.062 for caffeine and P > 0.999 for 4CmC). On the other hand, functional analysis using myotubes showed significant differences in the EC50 values for all variants (P < 0.001 for all comparisons). CONCLUSIONS:p.Ser2345Thr and p.Ser2345Arg appear capable of causing a calcium metabolism disorder that leads to the onset of MH, and p.Ser2345Arg can be considered as a diagnostic mutation, because it meets the European Malignant Hyperthermia Group criteria. However, patients with p.Lys3367Arg might have mutations in genes other than RYR1 that are capable of causing MH.
journal_name
J Anesthjournal_title
Journal of anesthesiaauthors
Noda Y,Yasuda T,Kanzaki R,Miyoshi H,Mukaida K,Kamiya S,Morio A,Hamada H,Kawamoto M,Tsutsumi YMdoi
10.1007/s00540-020-02803-wsubject
Has Abstractpub_date
2020-10-01 00:00:00pages
658-665issue
5eissn
0913-8668issn
1438-8359pii
10.1007/s00540-020-02803-wjournal_volume
34pub_type
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journal_title:Journal of anesthesia
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journal_title:Journal of anesthesia
pub_type: 杂志文章,多中心研究,随机对照试验
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abstract::The pharmacokinetics and pharmacodynamics of vecuronium bromide were studied in patients under general anesthesia of enflurane and nitrous oxide in oxygen. Eighteen patients were randomly divided into two groups which received either 0.05 mg.kg(-1) (low dose group) or 0.20 mg.kg(-1) (high dose group) of vecuronium int...
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pub_type: 临床试验,杂志文章,随机对照试验
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abstract::The effect-compartment concentration (C(e)) of a drug at a specific pharmacodynamic endpoint should be independent of the rate of drug injection. We used this assumption to derive an effect-compartment equilibrium rate constant (k(eo)) for propofol during induction of anesthesia, using a target controlled infusion dev...
journal_title:Journal of anesthesia
pub_type: 杂志文章,随机对照试验
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更新日期:2006-01-01 00:00:00
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journal_title:Journal of anesthesia
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journal_title:Journal of anesthesia
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journal_title:Journal of anesthesia
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abstract::We report a case of diplopia during continuous epidural injection presumably caused by catheter migration. A 61-year-old woman underwent shoulder surgery under general anesthesia with cervical epidural anesthesia. The epidural catheter was placed in the C6-C7 epidural space with some difficulty before general anesthes...
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