Scientists link clinical research with structural biology

Researchers from Norway have participated in a study that explores Short QT Syndrome, a genetic disease of the heart’s electrical system

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Figure 1, Short QT syndrome (SQTS) is a specific condition discovered in 1999. When the heart rhythm is recorded with an electrocardiogram (EKG), patients with this condition are found to have shorter QT intervals. The condition can cause dizziness and fainting, but can also lead to cardiac arrest and even sudden death.

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’.

By Annabel Darby
Published Dec. 13, 2017 3:49 PM - Last modified Oct. 24, 2019 2:09 PM