Question

What is the cause of malignant hyperthermia?

   What is the cause of malignant hyperthermia?

The Human Body in Health and Disease

The Human Body in Health and Disease

Kevin T. Patton,… 6th Edition

Chapter 19, Problem 19

Instant Answer

Solved by Expert Anand Jangid

09/22/2023

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Malignant hyperthermia is a rare, life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia, specifically volatile anesthetic agents and the neuromuscular blocking agent succinylcholine. Show more…

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What is the cause of malignant hyperthermia?

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Key Concepts

Genetic Mutations in Calcium Regulation

Malignant hyperthermia is primarily caused by inherited mutations, notably in genes such as the ryanodine receptor (RYR1), which plays a crucial role in the regulation of calcium release in skeletal muscle cells. These mutations disrupt normal calcium homeostasis, leading to uncontrolled calcium release during exposure to certain drugs.

Anesthetic Trigger Agents

Certain anesthetic drugs, including volatile anesthetics and depolarizing muscle relaxants like succinylcholine, act as triggers for malignant hyperthermia in susceptible individuals. These agents can initiate the abnormal calcium release in muscle cells, resulting in a hypermetabolic and potentially fatal reaction.

Pharmacogenetics

Pharmacogenetics studies how genetic variations influence an individual’s response to drugs. In the context of malignant hyperthermia, this concept explains why certain individuals with specific genetic mutations are predisposed to an abnormal reaction when exposed to triggering anesthetic agents.

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