Abstract
Background Malignant hyperthermia (MH), central core disease (CCD), exertional heat stroke (EHS) and late-onset axial myopathy have been attributed to mutations in ryanodine receptor type 1 (RYR1). The RyR1 protein is over 5000 amino acid residues long, making manipulation of the mammalian gene difficult. The ryanodine receptor in Caenorhabditis elegans is UNC-68, which has 40% amino acid identity to the human protein.
Highlights
Malignant hyperthermia (MH), central core disease (CCD), exertional heat stroke (EHS) and late-onset axial myopathy have been attributed to mutations in ryanodine receptor type 1 (RYR1)
The RyR1 protein is over 5000 amino acid residues long, making manipulation of the mammalian gene difficult
Four implicated in MH: ○ p.G341R c.1021G>A ○ p.R2163C c.6388G>A ○ p.R2454H c.7361G>A ○ pR2458H c.7373G>A
Summary
Caenorhabditis elegans as a model organism for RYR1 variants and muscle ageing Background Malignant hyperthermia (MH), central core disease (CCD), exertional heat stroke (EHS) and late-onset axial myopathy have been attributed to mutations in ryanodine receptor type 1 (RYR1). The RyR1 protein is over 5000 amino acid residues long, making manipulation of the mammalian gene difficult. The ryanodine receptor in Caenorhabditis elegans is UNC-68, which has 40% amino acid identity to the human protein.
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