Genetic mutation linked to sudden cardiac death

A recently study published has identified a genetic mutation in the calmodulin protein as being a possible cause of sudden cardiac death. A healthy and steady heartbeat is maintained by the controlled release of calcium into heart muscle by two key proteins: calmodulin and ryanodine receptor.

Scientists from Cardiff University 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.

Commenting on the findings, Professor Jeremy Pearson, associate medical director at British Heart Foundation (BHF), said: “Keeping the heart’s calcium levels under control is critical to maintaining a healthy rhythm. Showing how calmodulin mutation could disrupt this and lead to sudden cardiac death has provided new clues for how to treat the condition in the future.”

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