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Genetics of malignant hyperthermia.

Barbara W Brandom¹

¹University of Pittsburgh Medical Center, PA, USA. brandombw@anes.upmc.edu

Thescientificworldjournal

|January 2, 2007

Summary

Genetic studies reveal that the ryanodine receptor gene (RYR1) is strongly linked to malignant hyperthermia (MH) susceptibility. While not universally causative, RYR1 variants are found in most MH-susceptible individuals.

Area of Science:

Genetics
Pharmacology
Anesthesiology

Background:

Malignant hyperthermia (MH) is a severe pharmacogenetic disorder triggered by anesthetic agents.
Genetic investigations into MH susceptibility began with affected families and diagnostic contracture tests.

Purpose of the Study:

To identify the genetic basis of malignant hyperthermia (MH) susceptibility.
To investigate the role of the ryanodine receptor gene (RYR1) in MH.

Main Methods:

Family-based linkage studies were employed.
Genetic analysis focused on candidate genes, particularly RYR1.

Main Results:

Linkage studies frequently associated the MH phenotype with the ryanodine receptor gene (RYR1) on chromosome 19q13.1.

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RYR1 variants were identified in a significant number of MH-susceptible individuals.

Other candidate genes showed fewer variants in MH-susceptible families.

Conclusions:

The ryanodine receptor gene (RYR1) is the primary genetic locus associated with malignant hyperthermia (MH) susceptibility.
While other genes may contribute, RYR1 variants are the most common genetic cause of MH susceptibility.