Gene variant that causes fatal heart rhythm disorder identified

October 8th, 2008 - 4:55 pm ICT by ANI  

Washington, Oct 8 (ANI): Researchers at the University of Iowa and colleagues in France have identified a gene variant that causes a potentially fatal human heart rhythm disorder called sinus node disease or sick sinus syndrome.

While the newly discovered gene variant is rare, the study sheds light on cellular mechanisms that regulate sinus node function and identifies an unanticipated new pathway for developing future therapies to regulate more common forms of sinus node disease.

For the study, the researchers analyzed data from two families in France: a family of 74 individuals, 26 of whom had sinus node dysfunction, and a family of 44 individuals, 13 of whom had the disease.

Many of the affected individuals carried the same gene variant, and many experienced variable heart rate and bradycardia (dangerously low heart rate).

The researchers found that variants in a gene called ankyrin 2, or ANK2, resulted in dysfunction in the protein ankyrin-B in the members of these two different families.

“While a small number of the patients displayed heart disease symptoms, including ventricular arrhythmias, the prevalence of sinus node dysfunction in these patients was extremely high. In fact, most required the implantation of cardiac pacemakers,” said the study’’s senior author Peter Mohler, Ph.D., associate professor of internal medicine in the University of Iowa Carver College of Medicine.

“We predict that there are likely additional unidentified ankyrin variants in the larger general population that predispose humans to a combination of heart disease symptoms, including sinus node dysfunction, atrial fibrillation and ventricular arrhythmias,” he added.

The findings were published online Oct. 1 by the Proceedings of the National Academy of Sciences. (ANI)

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