Study identifies genetic changes in ACTN2 protein linked to sudden cardiac death

ANBAR, Iraq — Researchers led by the University of Birmingham have identified genetic variations in the ACTN2 protein that directly affect heart muscle and can cause sudden cardiac death, according to a study published in Nature Communications. The condition, known as hypertrophic cardiomyopathy, is among the leading causes of sudden cardiac arrest and can occur even in healthy individuals with high physical fitness. Working with the University of Oxford and the Harwell Research Complex, the team examined 17 genetic variations in the ACTN2 protein using advanced laboratory techniques. They found that each variation had a different effect: some weakened the protein's stability, increased its tendency to clump, and reduced its interactions with other cellular components. The researchers identified the actin-binding region as the part of the protein most sensitive to these changes. Professor Katja Gehmlich of the University of Birmingham said the findings represent an important step in understanding inherited heart disease. Dr. Fayyaz Mohammed, also from Birmingham, said the methodology developed for the study can be applied in other laboratories. Doctoral researcher Maya Noureddine said the work could contribute to future treatments for inherited cardiac conditions.