Question

Hundreds of mutations have been identified in ryr1 that contribute to multiple muscular diseases. assume that a new mutation was discovered that causes this receptor to continually remain open. based on what you know about the function of this receptor, how would you expect this new mutation to impact contraction?

Answer 1

The RYR1 gene is responsible for producing the protein ryanodine receptor 1. This protein transport calcium ions to the cells for muscle contraction. When this receptor remains open for a long time, you would expect an excess of calcium ions which would result to muscle rigidity. The excess calcium ions would also increase body temperature and produce excess acid.