engleski

Stress syndrome: Ryanodine receptor (RYR1) gene in malignant hyperthermia in humans and pigs

Anesthesia can induce skeletal muscle rigidity, hypermetabolism and high fever in men genetically predisposed to malignant hyperthermia ; such episodes can lead to tissue damage and sudden death if not immediately reversed. In pigs with reciprocal condition, stress can induce death or lead to devalued meat products. Muscle contraction is controlled by sarcoplasmatic Ca2+ and the abnormalities mentioned above can residue in the skeletal muscle Ca2+ release channel gene RYR1. It has been reported that a single RYR1 mutation is causal of malignant hyperthermia in all breeds of pigs and in at least some human families. The substitution of Cys for Arg 615 has been found to be the cause of malignant hyperthermia in all breeds of swine ; the appearance of the corresponding mutation, Cys for Arg 614 in a few human families also cosegregates with malignant hyperthermia. Linkage of malignant hyperthermia to RYR1 gene is, however, not observed in all human families with malignant hyperthermia. The results described in this paper present the prevalence of the porcine stress syndrome mutation in breeds of pigs in Croatia as well as the influence of malignant hyperthermia genotype on meat quality of pigs.

malignant hyperthermia ; stress syndrome ; RYR1 gene ; DNA testing ; halothane testing

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