Abstract
Malignant hyperthermia (MH) and central core disease (CCD) are inherited human disorders of skeletal muscle Ca 2+ homeostasis. Both MH and CCD are linked to mutations and/or deletions in the gene encoding the skeletal muscle ryanodine receptor (RyR1), the intracellular Ca 2+ release channel, which is essential to excitation–contraction (EC) coupling. Our knowledge on how mutations in RyR1 disrupt intracellular Ca 2+ homeostasis and EC coupling, eventually leading to MH and CCD has been recently improved, thanks to multidisciplinary studies ranging from clinical, single channel recordings, patch-clamp experiments, and molecular biology. This review presents a brief historical perspective, on how pioneer studies resulted in associating MH and CCD to RyR1. The review is also focused on discussing novel results in regard to pathophysiological consequences of specific MH/CCD RyR1 mutant proteins, which are representative of the different cellular mechanisms that are linked to either phenotype.
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