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Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
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Malignant hyperthermia (MH) is a pharmacogenetic, autosomal dominantly inherited disorder of skeletal muscle triggered by volatile anesthetics and infrequently by extreme exertion and heat exposure. MH has variable penetrance with an incidence ranging from 1 in 5000 to 1 in 50,000-100,000 anesthesias. Mutations in the ryanodine receptor gene, RYR1, are found in 50-70% of cases. We hypothesized that a portion of patients with drug-induced muscle diseases, unrelated to anesthesia, such as severe statin myopathy, have underlying genetic liability that may include RYR1 gene mutations. DNA samples were collected from 885 patients in 4 groups: severe statin myopathy (n=197), mild statin myopathy (n=163), statin-tolerant controls (n=133), and non-drug-induced myopathies of unknown etiology characterized by exercise-induced muscle pain and weakness (n=392). Samples were screened for 105 mutations and variants in 26 genes associated with 7 categories of muscle disease including 34 mutations and variants in the RYR1 gene. Disease-causing mutations or variants in RYR1 were present in 3 severe statin myopathy cases, 1 mild statin myopathy case, 8 patients with non-drug-induced myopathy, and none in controls. These results suggest that disease-causing mutations and certain variants in the RYR1 gene may contribute to underlying genetic risk for non-anesthesia-induced myopathies and should be included in genetic susceptibility screening in patients with severe statin myopathy and in patients with non-statin-induced myopathies of unknown etiology.
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An increased frequency of pathogenic variants in muscle-disease-associated genes has been reported, with a 13- to 20-fold higher incidence in subjects with severe myopathy compared with the general population.
“An increased frequency of pathogenic variants in muscle-disease-associated genes has been reported,96,112–114 with a 13- to 20-fold higher incidence in subjects with severe myopathy compared with the general population.96,112,113”
From Statin-associated muscle symptoms: impact on statin therapy—European Atherosclerosis Society Consensus Panel Statement on Assessment, Aetiology and Management (2015) · cites this paper as [112]
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Metadata
- Authors
- Vladutiu, G. D., Isackson, P. J., Kaufman, K., Harley, J. B., Cobb, B., Christopher-Stine, L., & Wortmann, R. L.
- Affiliations
- University at Buffalo, State University of New York (US)
- United States Department of Veterans Affairs (US)
- Cincinnati Children's Hospital Medical Center (US)
- Dartmouth–Hitchcock Medical Center (US)
- Corresponding author
- Vladutiu, Georgirene D.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2011-09
- Volume
- 104
- Issue
- 1-2
- Pages
- 167-173
- ISSN
- 1096-7192 (ISSN-L)
- PMC
- PMC3171598
- OpenAlex
- W2095350539
- Cited by
- 63
- References
- 40
- Citations by year
- 2025: 5 · 2024: 1 · 2023: 1 · 2022: 5 · 2021: 3 · 2020: 3 · 2019: 3 · 2018: 5 · 2017: 8 · 2016: 5 · 2015: 10 · 2014: 4 · 2013: 7 · 2012: 3
- FWCI
- 1.82
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NHLBI (1R41HL093956-01, RO1HL085800)
- UB Office of the Vice President for Research (GDV)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- malignant hyperthermia, RYR1 mutations, ryanodine receptor, statin-induced myopathy, genetic susceptibility, exercise-induced muscle pain, pharmacogenetics, skeletal muscle disorders, genetic screening
- MeSH terms
- Adult, Aged, Aged, 80 and over, Anesthesia, Female, Humans, Male, Malignant Hyperthermia, Middle Aged, Muscular Diseases, Mutation, Risk Factors, Case-Control Studies, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Ryanodine Receptor Calcium Release Channel, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis
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