An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies

• Published in: International journal of molecular sciences Vol. 25; no. 6; p. 3489
• Main Authors: Chang, Leon, Motley, Rebecca, Daly, Catherine L, Diggle, Christine P, Hopkins, Philip M, Shaw, Marie-Anne
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.03.2024; MDPI
• Subjects: Biopsy; Caffeine; Calcium - metabolism; Carrier Proteins - metabolism; Disease susceptibility; Disease Susceptibility - metabolism; Fatty acids; Fever; Gene Expression; Genes; Genetic aspects; Genetics; Genotype & phenotype; Halothane - metabolism; Halothane - pharmacology; Humans; Hyperthermia; Instrument industry; International economic relations; Males; Malignant hyperthermia; Malignant Hyperthermia - genetics; Malignant Hyperthermia - metabolism; Metabolism; mitochondria; Muscle Contraction; Muscle, Skeletal - metabolism; Muscles; Musculoskeletal system; Ontology; Oxidative Phosphorylation; Phosphorylation; RNA sequencing; Ryanodine Receptor Calcium Release Channel - genetics; Ryanodine Receptor Calcium Release Channel - metabolism; skeletal muscle; Type 2 diabetes; United States; United Kingdom; United Kingdom > UK; RNA sequencing; skeletal muscle; malignant hyperthermia; mitochondria; gene expression; oxidative phosphorylation

Malignant hyperthermia (MH) is a pharmacogenetic condition of skeletal muscle that manifests in hypermetabolic responses upon exposure to volatile anaesthetics. This condition is caused primarily by pathogenic variants in the calcium-release channel RYR1, which disrupts calcium signalling in skeleta...