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Gene That Causes Atrial Fibrillation Identified

Atrial fibrillation affects millions of Americans and is one of the most common causes of heart failure and stroke.

But researchers now have identified a gene that is responsible for this chaotic electrical activation of the heart muscle and atrial fibrillation (AF).// 'The discovery underscores the significance of heredity in susceptibility to atrial fibrillation,' explains Timothy M. Olson, M.D., director of the Cardiovascular Genetics Laboratory at Mayo Clinic. 'Identification of a new molecular basis for atrial fibrillation provides a critical step toward individualized diagnosis and treatment of arrhythmia,’ adds Andre Terzic, M.D., Ph.D., director of Mayo Clinic's Marriott Heart Disease Research Program.

The Mayo Clinic discovery is published in the July 15 issue of the journal Human Molecular Genetics. The Mayo Clinic study provides new insight into a previously unrecognized mechanism for electrical instability in the human heart. The Mayo multidisciplinary team is the first to identify a specific genetic mutation of the ion channel gene KCNA5 that leads to a disease-causing condition called a channelopathy. A channelopathy is an abnormality of specific miniature transportation tubes in cell membranes.

The job of these tubes -- or channels -- is to selectively allow certain charged particles in and out of the cell, and in this way, pass electrical currents in and out of the cell to regulate each heartbeat. The KCNA5 mutation causes loss of function of an atrial-specific potassium ion channel, disrupting electrical synchronization. This leads to susceptibility for atrial fibrillation. Atrial fibrillation is the most common arrhythmia -- or irregular heartbeat -- worldwide.

In the United States alone, more than 2 million Americans suffer from atrial fibrillation, constituting a major public health epidemic. During a person's lifetime, there is a 25 percent risk this rhythm disorder will develop, and patients with atri
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