T. Leeb et B. Brenig, RYANODINE RECEPTORS AND THEIR ROLE IN GENETIC-DISEASES (REVIEW), INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2(3), 1998, pp. 293-300
The skeletal muscle ryanodine receptor (RYR1) is a calcium release cha
nnel that mediates efflux of calcium ions from the sarcoplasmic reticu
lum into the myoplasm during excitation-contraction coupling. Mutation
s in the RYR1 gene have been detected in about 50% of the patients suf
fering from malignant hyperthermia (MH), but evidence is accumulating
that other genetic defects can also lead to MH in humans. MI-I is a li
fe-threatening disorder induced by exposure to volatile anesthetics an
d/or the muscle relaxans succinylcholin during surgical procedures in
affected patients. MH leads to skeletal muscle rigidity, hypermetaboli
sm and rapid rise in body temperature. MH is also known in pigs where
it is triggered by stress and therefore often referred to as porcine s
tress syndrome. The existence of an animal model has greatly faciliate
d the elucidation of the basis for the human disease. This review desc
ribes recent advances in the understanding of the physiological action
of ryanodine receptors and new insights regarding the relation betwee
n different RYR1 mutations and distinct phenotypical appearances.