The ryanodine receptor undergoes conformational shifts (yellow arrows) when the wild type (pictured) is compared to the R615C mutant.
Researchers in the Van Petegem lab have published a new structure of a ryanodine receptor showing how a mutation linked to disease causes a pathological conformation of the receptor. The ryanodine receptor is a calcium channel present in the endoplasmic and sarcoplasmic reticulum, and mutations in this channel have been linked to malignant hypothermia, myopathies and arrhythmias. In this work, researchers structurally characterise a mutation, R615C, in pig ryanodine receptor and show that this mutation does not merely shift the behaviour of the channel but induces a distinct conformation of the channel.