Malignant hyperthermia

Rosenberg, Henry; Davis, Mark; James, D.; Pollock, Neil; Stowell, Kathryn M.

doi:10.1186/1750-1172-2-21

Cited by 392 publications

(408 citation statements)

References 109 publications

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“…The incidence of MH is 1 in 15,000 anesthetized children and 1 in 50,000 to 100,000 anesthetized adults (MacLennan 1992;Strazis and Fox 1993;Rosenberg et al 2007). Another disorder related to MH is heat/exercise-induced exertional rhabdomyolysis; a clinical syndrome where heat/ exercise-induced triggers breakdown of striated muscles that results in renal failure, hyperkalemia, and multi-organ failure.…”

Section: Role Of Ryanodine Receptors In Human Diseasesmentioning

confidence: 99%

Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release

Lanner¹,

Georgiou²,

Joshi³

et al. 2010

Cold Spring Harbor Perspectives in Biology

655

572

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Ryanodine receptors (RyRs) are located in the sarcoplasmic/endoplasmic reticulum membrane and are responsible for the release of Ca 2þ from intracellular stores during excitation-contraction coupling in both cardiac and skeletal muscle. RyRs are the largest known ion channels (.2MDa) and exist as three mammalian isoforms (RyR 1 -3), all of which are homotetrameric proteins that interact with and are regulated by phosphorylation, redox modifications, and a variety of small proteins and ions. Most RyR channel modulators interact with the large cytoplasmic domain whereas the carboxy-terminal portion of the protein forms the ion-conducting pore. Mutations in RyR2 are associated with human disorders such as catecholaminergic polymorphic ventricular tachycardia whereas mutations in RyR1 underlie diseases such as central core disease and malignant hyperthermia. This chapter examines the current concepts of the structure, function and regulation of RyRs and assesses the current state of understanding of their roles in associated disorders.

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Section: Role Of Ryanodine Receptors In Human Diseasesmentioning

confidence: 99%

Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release

Lanner¹,

Georgiou²,

Joshi³

et al. 2010

Cold Spring Harbor Perspectives in Biology

655

572

View full text Add to dashboard Cite

show abstract

“…Malignant hyperthermia (MH) is a pharmacogenetic disorder in which susceptible individuals develop a catastrophic hypermetabolic response to a subset of anesthetics [5,6]. The classic triggering agents are the inhaled volatile gases (halothane, isoflurane, sevoflurane, etc.…”

Section: Malignant Hyperthermia Susceptibilitymentioning

confidence: 99%

Triadopathies: An Emerging Class of Skeletal Muscle Diseases

2014

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The triad is a skeletal muscle substructure responsible for the regulation of excitation-contraction coupling. It is formed by the close apposition of the T-tubule and the terminal sarcoplasmic reticulum. A rapidly growing list of skeletal myopathies, here referred to as triadopathies, are caused by gene mutations in components of the triad. These disorders, at their root, are caused by defects in excitation contraction coupling and intracellular calcium homeostasis. Secondary abnormalities in triad structure and/or function are also reported in several muscle diseases, most notably certain muscular dystrophies. This review highlights the current understanding of both primary and secondary triadopathies, and identifies important concepts yet to be fully addressed in the field. The emphasis of the review is both on the pathogenesis of triadopathies and their potential treatment.

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“…Due to the clinical picture, the relative contraindication to muscle biopsy due to the patient's recent history of DVT, and her refusal for muscle biopsy, we followed the Malignant Hyperthermia Association of the United States recommendations 13 and proceeded directly to molecular genetic testing.…”

Section: Discussionmentioning

confidence: 99%