PUBLIC RELEASE DATE:

18-Feb-2014

Contact: Tom Vasich tmvasich@uci.edu 949-824-6455 University of California - Irvine

Irvine, Calif., Feb. 18, 2014 UC Irvine researchers have found a specific genetic flaw that is connected to sudden death due to heart arrhythmia a leading cause of mortality for adults around the world.

While a number of genes have been linked with arrhythmias, UC Irvine's Geoffrey Abbott and his colleagues discovered that the functional impairment of a gene called KCNE2 underlies a multisystem syndrome that affects both heart rhythm and blood flow and can activate chemical triggers that can cause sudden cardiac death.

"With these findings, we can now explore improved early detection and prevention strategies for people who are at higher risk of sudden cardiac death, such as those with diabetes," said Abbott, a professor of pharmacology and physiology & biophysics in the UC Irvine School of Medicine.

Study results appear in the February issue of Circulation: Cardiovascular Genetics, a publication of the American Heart Association.

Distinct from a heart attack, in which the heart continues to beat but blood flow is blocked, sudden cardiac death occurs when the heart ceases to beat because of the uncontrolled twitching of muscle fibers in its ventricles. Without defibrillation within minutes, this type of event is fatal.

In studies on a mouse model with the KCNE2 gene removed, Abbott and his colleagues had found catalysts for sudden cardiac death including high blood cholesterol, anemia, high blood potassium, an age-related delay in the return to a resting position of the ventricle after contraction and, most surprisingly, diabetes.

Abbott said this link to diabetes and other systemic disturbances is significant because genes such as KCNE2 are better known for directly controlling the electrical signaling that ensures a steady heartbeat. The KCNE2 gene provides instructions for making a protein that regulates the activity of potassium channels, which play a key role in a cell's ability to generate and transmit electrical signals. Channels regulated by the KCNE2 protein are present in heart muscles and help recharge them after each heartbeat to maintain a regular rhythm.

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UCI study finds specific genetic cue for sudden cardiac death syndrome