A gene mutation preventing two vital proteins from regulating the body’s heartbeat could be the cause of sudden cardiac death according to new research.
A healthy and steady heartbeat is maintained by the controlled release of calcium into heart muscle by two key proteins called calmodulin and ryanodine receptor. A study published earlier this year identified a genetic mutation in the calmodulin protein as being a possible cause of sudden cardiac death.
Scientists from Cardiff University have now found the genetic flaw works by preventing the two proteins from binding and regulating the levels of calcium, causing the heart to beat more irregularly.
Our Associate Medical Director Professor Jeremy Pearson said: “Keeping the heart’s calcium levels under control is critical to maintaining a healthy rhythm.
“By showing how calmodulin mutation could disrupt this and lead to sudden cardiac death, the Cardiff team have provided new clues for how to treat the condition in the future.
“Uncovering genetic links like this is vital to help combat the devastating effects of inherited heart conditions. The BHF is urgently campaigning for more research to help find the undiscovered faulty genes putting people at greater risk of heart disease.”