Gene for the ryanodine receptor, mutation in which is responsible for malignant hypehermia is located on which chromosome-
Malignant hypehermia is a genetic(autosomal dominant) hypermetabolic muscle disease. Malignant hypehermia is a genetic disorder; there is a defect in the gene that codes for the protein ryanodine receptor (RyR) in skeletal muscle. Ryanodine receptor is a Ca2+-release channel present in the membrane of L-tubule of skeletal muscle. When it couples with dihydropyridine receptor (DHPR)from T Tubules , there is release of Ca2+ into the sarcoplasm, initiating muscle contraction.So Increased Ca++ transpo L-type calcium channels in T-tubules leads to malignant hypehermia DHPR is an L-type voltage-sensitive Ca2+ channel. Rarely inhalational anaesthetics can cause A malignant hypehermia manifesting as muscle rigidity, sweating and masseteric spasm
Chromosome 19
Chromosome 17
Chromosome 18
Chromosome 16
Inhalational Anesthetic Agents