Literature DB >> 28902675

Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Sheila Riazi1, Natalia Kraeva, Philip M Hopkins.   

Abstract

This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.

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Year:  2018        PMID： 28902675      PMCID： PMC5726912          DOI： 10.1097/ALN.0000000000001878

Source DB:  PubMed          Journal:  Anesthesiology        ISSN： 0003-3022            Impact factor:   7.892


  124 in total

1.  Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.

Authors:  S L Stewart; K Hogan; H Rosenberg; J E Fletcher
Journal:  Clin Genet       Date:  2001-03       Impact factor: 4.438

Review 2.  Bridging the myoplasmic gap II: more recent advances in skeletal muscle excitation-contraction coupling.

Authors:  Roger A Bannister
Journal:  J Exp Biol       Date:  2016-01       Impact factor: 3.312

3.  Malignant hyperthermia testing in probands without adverse anesthetic reaction.

Authors:  Matthew A Timmins; Henry Rosenberg; Marilyn Green Larach; Carly Sterling; Natalia Kraeva; Sheila Riazi
Journal:  Anesthesiology       Date:  2015-09       Impact factor: 7.892

4.  A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.

Authors:  P Jason Toppin; Tony T Chandy; Anand Ghanekar; Natalia Kraeva; W Scott Beattie; Sheila Riazi
Journal:  Can J Anaesth       Date:  2010-04-30       Impact factor: 5.063

5.  A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.

Authors:  R L Robinson; N Monnier; W Wolz; M Jung; A Reis; G Nuernberg; J L Curran; K Monsieurs; P Stieglitz; L Heytens; R Fricker; C van Broeckhoven; T Deufel; P M Hopkins; J Lunardi; C R Mueller
Journal:  Hum Mol Genet       Date:  1997-06       Impact factor: 6.150

6.  Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.

Authors:  D Figarella-Branger; G Kozak-Ribbens; L Rodet; M Aubert; J Borsarelli; P J Cozzone; J F Pellissier
Journal:  Neuromuscul Disord       Date:  1993 Sep-Nov       Impact factor: 4.296

7.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Authors:  Elena Zvaritch; Natasha Kraeva; Eric Bombardier; Robert A McCloy; Frederic Depreux; Douglas Holmyard; Alexander Kraev; Christine E Seidman; J G Seidman; A Russell Tupling; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-03       Impact factor: 11.205

8.  Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.

Authors:  T Deufel; R Sudbrak; Y Feist; B Rübsam; I Du Chesne; K L Schäfer; N Roewer; T Grimm; F Lehmann-Horn; E J Hartung
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

9.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

10.  Structural insights into Ca(2+)-activated long-range allosteric channel gating of RyR1.

Authors:  Risheng Wei; Xue Wang; Yan Zhang; Saptarshi Mukherjee; Lei Zhang; Qiang Chen; Xinrui Huang; Shan Jing; Congcong Liu; Shuang Li; Guangyu Wang; Yaofang Xu; Sujie Zhu; Alan J Williams; Fei Sun; Chang-Cheng Yin
Journal:  Cell Res       Date:  2016-08-30       Impact factor: 25.617
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  38 in total

1.  Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Authors:  Senthilkumar Sadhasivam; Barbara W Brandom; Richard A Henker; John J McAuliffe
Journal:  Pharmacogenomics       Date:  2019-09       Impact factor: 2.533

2.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

3.  Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.

Authors:  J R Lopez; V Kaura; C P Diggle; P M Hopkins; P D Allen
Journal:  Br J Anaesth       Date:  2018-08-10       Impact factor: 9.166

4.  Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Authors:  Daniel C Helbling; David Mendoza; Julie McCarrier; Mark A Vanden Avond; Matthew M Harmelink; Paul E Barkhaus; Donald Basel; Michael W Lawlor
Journal:  J Neuropathol Exp Neurol       Date:  2019-03-01       Impact factor: 3.685

Review 5.  A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician.

Authors:  Devan R Cote; Eva Fuentes; Ali H Elsayes; Jonathan J Ross; Sadeq A Quraishi
Journal:  J Anesth       Date:  2020-05-18       Impact factor: 2.078

Review 6.  Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Authors:  Stephen G Gonsalves; Robert T Dirksen; Katrin Sangkuhl; Rebecca Pulk; Maria Alvarellos; Teresa Vo; Keiko Hikino; Dan Roden; Teri E Klein; S Mark Poler; Sephalie Patel; Kelly E Caudle; Ronald Gordon; Barbara Brandom; Leslie G Biesecker
Journal:  Clin Pharmacol Ther       Date:  2019-01-24       Impact factor: 6.875

7.  Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses.

Authors:  James J Dowling; Sheila Riazi; Ronald S Litman
Journal:  A A Pract       Date:  2021-01-19

8.  Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance.

Authors:  Kim M Truong; Isaac N Pessah
Journal:  Toxicol Sci       Date:  2019-02-01       Impact factor: 4.849

9.  A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

Authors:  Carlos A Ibarra Moreno; Natalia Kraeva; Elena Zvaritch; Lourdes Figueroa; Eduardo Rios; Leslie Biesecker; Filip Van Petegem; Philip M Hopkins; Sheila Riazi
Journal:  Br J Anaesth       Date:  2020-08-27       Impact factor: 9.166

Review 10.  A Look at Genetic Linkage between Clozapine-induced Agranulocytosis, Malignant Hyperthermia, Neuroleptic Malignant Syndrome, and Statin-induced Myopathy.

Authors:  Nitin Pothen; Shveta Kansal; Theodor Rais; Stacy Doumas; Ramon Solhkhah
Journal:  Innov Clin Neurosci       Date:  2019-11-01
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