Gene for the ryanodine receptor, mutation in which is responsible for malignant hypehermia is located on which chromosome-
Correct Answer: Chromosome 19
Description: 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
Category:
Anaesthesia
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now