Israeli scientists identify gene causing atrial fibrillation disease

Israeli researchers have identified a previously unknown mechanism of gene mutation causing atrial fibrillation (AF), the Ben-Gurion University (BGU) reported Thursday.

Based on the findings, the researchers from the BGU and the National Institute for Biotechnology in the Negev are in the preliminary stages of developing anti-arrhythmia medication, it said.

AF is one of the major causes of irregular heartbeats and leads to stroke, which is often without symptoms and hard to be detected until it occurs. It can also lead to blood clots, heart failure and other heart-related complications.

According to the U.S. Centers for Disease Control and Prevention, about 0.5 percent of the world’s population suffers from AF.

Yet, AF causes are not fully known, and present treatment modalities are only partially effective.

In the Israeli study, published in the journal Circulation: Genomic and Precision Medicine, it was found that the mostly night-time AF was caused by a mutation in the gene KCND2, encoding a crucial component of a potassium ion channel in the heart.

Combining genetic studies with frog oocyte and mutant mouse analyzes, the researchers showed that the mutation increases channel conductivity, thus greatly enhancing predilection to AF.

This channel is expressed specifically in the cardiac atria, at significantly higher levels during night time, explaining why its mutation causes AF specifically at night.

The researchers said that, considering its specificity to cardiac atria and its night-time expression, this channel is an optimal drug target for novel treatment modalities of AF.