The study, led by researchers at Aarhus University in Denmark, succeeded in identifying and characterising the consequence of a newly discovered mutation that is linked to cardiac arrhythmia, which can cause sudden and unexpected heart failure.
The findings, ‘”Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome” were recently published in the journal Nature Communications.
Thematic links to research at NCMM
The study shows that patients who carry this gene mutation have a defective transport of ions across cell membranes, resulting in increased pH and reduced chlorine ion concentration in the heart muscle cells. The research has thematic links to studies carried out on another type of bicarbonate transporter carried out by the Morth Group at NCMM, which linked Zinc-binding to an important transport protein involved with pH regulation in the brain.
Read more about the study in an article on the Aarhus University website: ‘Patients with cardiac arrest show the way to a completely new gene’.