Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue

Exertional and/or environmental heat stroke (ES) and exertional rhabdomyolysis (ER) has been reported in patients with diagnosis of Malignant Hyperthermia (MH). MH is a life-threatening pharmacogenetic disorder caused by mutations in the ryanodine receptor type 1 gene (RYR1) encoding skeletal muscle calcium release channel. Our goal is to identify RYR1 mutations associated with enhanced susceptibility to EHS/ER/MH by enrolling subjects diagnosed with these conditions and performing genetic screening. We also proposed to evaluate the ability of AICAR to prevent the MH response in MHS mice and pigs.
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