Which of the following type of receptor is involved in malignant hypehermia ?
High-Yield Explanation
Malignant hypehermia (MH) is inherited as an autosomal dominant trait with reduced penetrance. It is associated with mutations in 2 genes: RyR1 (ryanodine receptor type 1), which encodes the skeletal muscle isoform of the calcium release channel of the sarcoplasmic reticulum, and CACNA1S, which encodes the alpha subunit of the L-type calcium channel isoform of the sarcolemma (dihydropyridine receptor). The RyR1 gene is located on chromosome 19. Malignant hypehermia (MH) is a subclinical myopathy that allows large quantities of calcium to be released from the sarcoplasmic reticulum (SR) of skeletal muscle and cause a hypermetabolic state after exposure to triggering agents. Altered calcium channel gating kinetics in the SR is the underlying cause. The sustained elevation of calcium allows excessive stimulation of aerobic and anaerobic glycolytic metabolism, which accounts for respiratory and metabolic acidosis, rigidity, altered cell permeability, and hyperkalemia.