Gene Variant Behind a Type of Irregular Heartbeat Identified

Researchers have identified a common gene variant associated with a form of the irregular heartbeat called atrial fibrillation.

It is a condition in which the upper chambers of the heart, called the atria, beat in a rapid and uncoordinated fashion, which can cause blood to pool within the heart. If blood clots form within the heart, they can break loose, travel to the brain and cause a stroke.

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The international team of researchers have described finding that variations affecting a protein that may help control the heart's electrical activity appear to increase the risk of what is called lone atrial fibrillation (AF).

Patrick Ellinor, of the Massachusetts General Hospital (MGH) Cardiovascular Research Center and Cardiac Arrhythmia Service, a co-corresponding author of the report, said: "The genetic location we have identified could be a new drug target for the treatment of AF.

"We also will be investigating whether these variants can help us predict patients' clinical outcomes or their response to the various treatments for AF."

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The analysis associated lone AF with several common variants on a segment of chromosome 1. The most significant variants were found in the gene for KCNN3, a potassium channel protein that carries signals across cell membranes in organs including the brain and the heart.

It may play a part in resetting the electrical activity of the atria, a process that goes awry in AF. Animal studies have suggested that a related protein, KCNN2, may help control signals originating in the atria and in the pulmonary veins, areas known to be involved in lone AF.

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The researchers replicated the association of KCNN3 variants with lone AF in data from two additional GWAS studies involving another 1,000 lone AF patients and 3,500 controls. (ANI)

The study has been reported in the journal Nature Genetics. (ANI)

Source-ANI
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