Novel Interventions for Heat/Exercise Induced Sudden Death and Fatigue
Final rept. 1 Oct 2010-30 Sep 2014
BAYLOR COLL OF MEDICINE HOUSTON TX
Pagination or Media Count:
This study was designed to identify human mutation that caused Exertional andor environmental heat stroke EHS and exertional rhabdomyolysis ER and to develop new interventions to prevent EHS and ER. We identified RyR1 mutations as a major cause of exertional rhabdomyolysis. 82 of the individuals that were enrolled in the study that had a family history of MH were positive for disease-associated mutations in the RYR1 gene, while 10.5 of index cases enrolled for a history of unexplained or recurrent ER were positive for disease-associated mutations in the RYR1 gene. All of these cases were CHCT positive. Although AICAR was not effective in preventing isoflurane or heat induced episodes in hyper-metabolic response in pigs homozygous for an RyR1 mutation, AICAR was effective in preventing heat-induced hyper-metabolic responses in the heterozygous mouse model of malignant hyperthermia.
- Medicine and Medical Research