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Molecular Genetics of Malignant Hyperthermia Susceptibility and Related Diseases
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Molecular Genetics of Malignant Hyperthermia Susceptibility and Related Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (5 August 2025) | Viewed by 921

Special Issue Editor

Dr. Nyamkhishig Sambuughin

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Guest Editor
Consortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA
Interests: molecular genetics of muscle disorders specifcally triggarable muscle disorders to inlcude malignant hyperthermia; exertional rahdbomyolysis and exercise intolerance

Special Issue Information

Dear Colleagues,

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that manifests as a hypermetabolic reaction in susceptible individuals upon exposure to halogenated inhalational anesthetic or succinylcholine.  Susceptibility to MH has been associated with pathogenic variants in RYR1, CACNA1S, and STAC3 genes. Of those, dominant variants in RYR1 account for about 70% of MH cases. RYR1 encodes the skeletal muscle calcium-release channel, which plays a central role in muscle Ca2+ regulation, linking surface membrane potential to muscle contraction. Although not common, non-anesthesia-related environmental factors such as exercise, heat, or both may trigger MH. This led to finding RYR1 variants in environmentally triggerable conditions such as exertional rhabdomyolysis and exertional heat illness. Dominant and recessive variants in RYR1 have also been associated with various non-dystrophic myopathies that include central core disease, multi-minicore disease, centronuclear myopathy, and congenital fiber type disproportion. Collectively, these disorders are considered to be RYR1-related disorders. This Special Issue is focused on the genetic contribution to MH susceptibility, and RYR1-related disorders.

Dr. Nyamkhishig Sambuughin
Guest Editor

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Keywords

  • malignant hyperthermia
  • malignant hyperthermia susceptibility
  • RYR1
  • CACNA1S
  • STAC3
  • RYR1 related congenital myopathies
  • exertional rhabdomyolysis
  • exertional heat illness

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Published Papers (1 paper)

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Research

10 pages, 1191 KiB  
Article
RNA Sequencing on Muscle Biopsies from Exertional Rhabdomyolysis Patients Revealed Down-Regulation of Mitochondrial Function and Enhancement of Extracellular Matrix Composition
by Mingqiang Ren, Luke P. Michaelson, Ognoon Mungunsukh, Peter Bedocs, Liam Friel, Kristen Cofer, Carolyn E. Dartt, Nyamkhishig Sambuughin and Francis G. O’Connor
Genes 2025, 16(8), 930; https://doi.org/10.3390/genes16080930 - 2 Aug 2025
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Abstract
Background/Objective: Exertional rhabdomyolysis (ER) is primarily driven by mechanical stress on muscles during strenuous or unaccustomed exercise, often exacerbated by environmental factors like heat and dehydration. While the general cellular pathway involving energy depletion and calcium overload is understood in horse ER models, [...] Read more.
Background/Objective: Exertional rhabdomyolysis (ER) is primarily driven by mechanical stress on muscles during strenuous or unaccustomed exercise, often exacerbated by environmental factors like heat and dehydration. While the general cellular pathway involving energy depletion and calcium overload is understood in horse ER models, the underlying mechanisms specific to the ER are not universally known within humans. This study aimed to evaluate whether patients with ER exhibited transcriptional signatures that were significantly different from those of healthy individuals. Methods: This study utilized RNA sequencing on skeletal muscle samples from 19 human patients with ER history, collected at a minimum of six months after the most recent ER event, and eight healthy controls to investigate the transcriptomic landscape of ER. To identify any alterations in biological processes between the case and control groups, functional pathway analyses were conducted. Results: Functional pathway enrichment analyses of differentially expressed genes revealed strong suppression of mitochondrial function. This suppression included the “aerobic electron transport chain” and “oxidative phosphorylation” pathways, indicating impaired energy production. Conversely, there was an upregulation of genes associated with adhesion and extracellular matrix-related pathways, indicating active restoration of muscle function in ER cases. Conclusions: The study demonstrated that muscle tissue exhibited signs of suppressed mitochondrial function and increased extracellular matrix development. Both of these facilitate muscle recovery within several months after an ER episode. Full article
(This article belongs to the Special Issue Molecular Genetics of Malignant Hyperthermia Susceptibility and Related Diseases)
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