Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue
Annual rept. 1 Oct 2011-30 Sep 2012
BAYLOR COLL OF MEDICINE HOUSTON TX
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Exertional andor 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 EHSERMH 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.
- Anatomy and Physiology
- Medicine and Medical Research
- Stress Physiology