Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue
Abstract
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.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2012
- Accession Number
- ADA568013
Entities
People
- John Capacchione
- Nyamkhishig Sambuughin
- Rolf Bunger
- Sheila M. Muldoon
- Susan L. Hamilton
- Tarina Wallacer
Organizations
- Baylor College of Medicine