ArticleNature communications2022
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction coupling.Journal of human genetics · 2026Review
- A New Paradigm for Precision Medicine in Heatstroke: From Molecular Subtyping to Targeted Prevention and Treatment.Journal of inflammation research · 2026Review
- Genetic Testing for Malignant Hyperthermia Susceptibility-Threading the Needle in the Haystack.Genes · 2025Review
- Article
- Article
- Impact of hyper- and hypothermia on cellular and whole-body physiology.Journal of intensive care · 2025Review
- Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle.Frontiers in genetics · 2025Article
- Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.International journal of molecular sciences · 2024Article
- Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.Human molecular genetics · 2024Article
- Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.Disease models & mechanisms · 2023Article
- Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Exertional heat illness (EHI) and malignant hyperthermia (MH) are life threatening conditions associated with muscle breakdown in the setting of triggering factors including volatile anesthetics, exercise, and high environmental temperature. To identify new genetic variants that predispose to EHI and/or MH, we performed genomic sequencing on a cohort with EHI/MH and/or abnormal caffeine-halothane contracture test. In five individuals, we identified rare, pathogenic heterozygous variants in ASPH, a gene encoding junctin, a regulator of excitation-contraction coupling. We validated the pathogenicity of these variants using orthogonal pre-clinical models, CRISPR-edited C2C12 myotubes and transgenic zebrafish. In total, we demonstrate that ASPH variants represent a new cause of EHI and MH susceptibility.
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Registered trials
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