Grant: Project Grant

Our muscles rely on electrical signals to contract. When our brains send out a signal, this ultimately leads to a small electrical current inside the muscle cell. This then leads to contraction, via a very complex process. In some cases, this process is faulty, leading to life-threatening conditions. For example, some patients undergoing general anaesthesia during surgery can have a massive spike in body temperature that can ultimately kill them. The reason is genetic: one of the genes, involved in muscle contraction, has a mutation that leads to an overload of calcium ions into the muscle cells. This leads to muscle rigidity and a very high rise in body temperature (>43 degrees Celsius). Without intervention, this is a deadly situation. Here we try to understand both the basic mechanism of the coupling, as well as the mechanism through which mutations in the specific muscle genes lead to disease.