Malignant Hyperthermia: A Pharmacogenetic Disorder
Abstract
Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by volatile anesthetics or depolarizing muscle relaxants in predisposed individuals. Exercise or stress-induced MH episodes, in the absence of any obvious pharmacological trigger, have been reported, but these are rare. A considerable effort has taken place over the last two decades to identify mutations associated with MH and characterize their functional effects. A number of different, but complementary systems, have been developed and implemented to this end. The results of such studies have identified commonalities in functional affects of mutations, and also uncovered unexpected complexities in both the structure and function of the skeletal muscle calcium-release channel. The following review is an attempt to provide a summary of the background to current MH research, and highlight some recent advances in our knowledge of the molecular basis of the phenotypic expression of this disorder.
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Indirect evidence from malignant hyperthermia and mild cold exposure in humans suggest that muscle NST mechanisms may exist.
“Clearly, indirect evidence from malignant hyperthermia 44 and mild cold exposure in humans 45 suggest that such mechanisms may exist and that further investigation of this area is warranted.”
From Cellular bioenergetics as a target for obesity therapy (2010) · cites this paper as [44]
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Cellular bioenergetics as a target for obesity therapy
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- Authors
- Stowell, K. M.
- Affiliations
- Massey University (NZ)
- Corresponding author
- Stowell, Kathryn M
- ORCID
- Stowell, Kathryn M
- Venue
- Pharmacogenomics
- Publisher
- Informa UK Limited
- Published
- 2008-11
- Volume
- 9
- Issue
- 11
- Pages
- 1657-1672
- ISSN
- 1462-2416 (ISSN-L)
- 1744-8042
- OpenAlex
- W1982091952
- Cited by
- 52
- References
- 135
- Citations by year
- 2024: 1 · 2022: 1 · 2021: 1 · 2020: 5 · 2018: 2 · 2017: 4 · 2016: 1 · 2015: 5 · 2014: 4 · 2013: 9 · 2012: 7
- FWCI
- 0.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pharmacogenomics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Anesthesiology and Pain Medicine › Anesthesia and Sedative Agents
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- malignant hyperthermia, pharmacogenetics, skeletal muscle ryanodine receptor, RYR1 mutations, calcium release channel, volatile anesthetics, depolarizing muscle relaxants, molecular basis of disease
- MeSH terms
- Animals, Calcium, Humans, Malignant Hyperthermia, Muscle Relaxants, Central, Myocardium, Pharmacogenetics, Muscle, Skeletal, Ryanodine Receptor Calcium Release Channel, Genetic Predisposition to Disease
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