Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle

Fagerlund, T. H.; Islander, Gunilla; Ranklev, E.; Harbitz, I.; Jg, Hauge; Møkleby, E; Berg, Kåre

doi:10.1111/j.1399-0004.1992.tb03680.x

Cited by 33 publications

(4 citation statements)

References 8 publications

(8 reference statements)

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“…1993, Fagerlund et al 1994. Another seven mutations have been detected in the human RYRl gene, and families without linkage between MHS and the RYRl gene have been observed (Levitt et al 1991, Fagerlund et al 1992.…”

Section: Discussionmentioning

confidence: 99%

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

et al. 1995

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Eight mutations in the gene (the RYR1 gene) encoding the calcium release channel of sarcoplasmic reticulum (SR) in skeletal muscle are so far known to be very closely linked to malignant hyperthermia susceptibility in man and are regarded to be causative. We have examined 41 Swedish families where malignant hyperthermia had occurred in at least one member during anaesthesia, with respect to three of the known mutations. The mutations were Arg163Cys; Ile403Met and Arg614Cys (also known as the “pig mutation”). In three (i.e. 7%) of the families we detected the Arg614Cys mutation, and this was the only one of the mutations searched for that was observed. This indicates that other mutations than those searched for in this study must cause malignant hyperthermia susceptibility in most Swedish malignant hyperthermia susceptible families.

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Section: Discussionmentioning

confidence: 99%

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

et al. 1995

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“…1 Genetic analysis has confirmed that MH is a pharmacogenetic disorder comprising calcium channel abnormality in skeletal muscles. 2 Pathogenic variants in the RYR1 (encoding ryanodine receptor 1), CACNA1S (encoding calcium voltage-gated channel subunit alpha1 S), or STAC3 (encoding SH3 and cysteine rich domain 3) genes have been clearly associated with MH and severe dysregulation of skeletal muscle Ca 2+ homeostasis. 3 Up to the search date in the present review, 66 RYR1 gene pathogenic variants and 2 CACNA1S gene pathogenic variants have been used for diagnostic genetic testing of MH (https://www.emhg.org/ diagnostic-mutations).…”

Section: Introductionmentioning

confidence: 99%

“…Malignant hyperthermia (MH) is a life‐threating orphan disease that can occur not only at any time during anesthesia, but also in the early postoperative period 1 . Genetic analysis has confirmed that MH is a pharmacogenetic disorder comprising calcium channel abnormality in skeletal muscles 2 . Pathogenic variants in the RYR1 (encoding ryanodine receptor 1), CACNA1S (encoding calcium voltage‐gated channel subunit alpha1 S), or STAC3 (encoding SH3 and cysteine rich domain 3) genes have been clearly associated with MH and severe dysregulation of skeletal muscle Ca 2+ homeostasis 3 .…”

Section: Introductionmentioning

confidence: 99%

Epidemiological and clinical features of malignant hyperthermia: A scoping review

Cong,

Wan,

Wang

et al. 2023

Clinical Genetics

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Malignant hyperthermia (MH) is a potentially fatal inherited pharmacogenetic disorder related to pathogenic variants in the RYR1, CACNA1S, or STAC3 genes. Early recognition of the occurrence of MH and prompt medical treatment are indispensable to ensure a positive outcome. The purpose of this study was to provide valuable information for the early identification of MH by summarizing epidemiological and clinical features of MH. This scoping review followed the methodological framework recommended by Arksey and O'Malley. PubMed, Embase, and Web of science databases were searched for studies that evaluated the epidemical and clinical characteristics of MH. A total of 37 studies were included in this review, of which 26 were related to epidemiology and 24 were associated with clinical characteristics. The morbidity of MH varied from 0.18 per 100 000 to 3.9 per 100 000. The mortality was within the range of 0%–18.2%. Identified risk factors included sex, age, disorders associated with MH, and others. The most frequent initial clinical signs included hyperthermia, sinus tachycardia, and hypercarbia. The occurrence of certain signs, such as hypercapnia, delayed first temperature measurement, and peak temperature were associated with poor outcomes. The epidemiological and clinical features of MH varied considerably and some risk factors and typical clinical signs were identified. The main limitation of this review is that the treatment and management strategies were not assessed sufficiently due to limited information.

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“…Typical findings are the presence of central cores (amorphous areas in fibers devoid of oxidative enzymes) and the absence of mitochondria in a majority of type 1 muscle fibers. CCD is considered to be closely associated with malignant hyperthermia susceptibility (Shuaib et al 1987, Brownell et al 1988, which is a heterogeneous trait (Levitt et al 1991, Deufel et al 1992, Fagerlund et al 1992. MH susceptibility is also believed to be inherited in an autosomal dominant pattern.…”

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confidence: 99%

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers

et al. 1996

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Malignant hyperthermia (MH) susceptibility is considered a subclinical myopathy or a pharmacogenetic trait, and is believed to be closely associated with central core disease (CCD). Data support the notion that MH susceptibility is heterogeneous, with the ryanodine receptor 1 (RYR1) locus on chromosome 19 being one locus harboring a gene that can cause MH susceptibility. The gene for CCD is believed to reside in the locus on chromosome 19. In the family presented here, a girl has CCD, and several close relatives are MH susceptible (MHS). DNA studies conducted on available family members uncovered recombination between the MH susceptibility locus and RYR1 markers. Consequently, if one postulates that the CCD gene in this family resides in the same locus as the MH susceptibility gene, an additional CCD locus different from the RYR1 locus must also be postulated.

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Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle

Cited by 33 publications

References 8 publications

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia

Epidemiological and clinical features of malignant hyperthermia: A scoping review

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers

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