UC Researchers Identify Genetic Variant Linked to Heart Malfunction

UC researchers Evangelia Kranias, PhD, Jack Rubinstein, MD, Keith Jones, PhD, and Hong-Sheng Wang, PhD, are among the co-authors of a study published in the October edition of the Journal of the American Heart Association identifying a genetic variant in a cardiac protein that can be linked to heart rhythm malfunction and sudden cardiac death in dilated cardiomyopathy patients.

Dilated cardiomyopathy is a condition in which the heart becomes weakened and enlarged and cannot pump blood. The research by the UC team and its colleagues has opened new possibilities for treatment. Sudden cardiac death is a risk for patients with heart failure who are carriers of this variant in the histidine-rich calcium-binding protein because calcium inside their heart cells is not properly controlled, possibly leading to development of arrhythmias.

"This is an extremely interesting finding and may have significant implications in heart failure treatment,” Kranias explains. "The identified variant in the histidine rich calcium binding protein may serve as a prognostic factor for arrhythmia development in heart failure patients leading to new front in the field of cardiology.”

The histidine-rich calcium-binding protein (HRC) regulates calcium use in the heart and plays an important role in heart contraction and relaxation. The team of UC researchers and their colleagues identified a genetic variant in HRC, named Ser96Ala, which showed an association with worsening ventricular arrhythmias and sudden cardiac death in a group of patients with idiopathic dilated cardiomyopathy.

In the study, the team characterized the mechanisms and pathways that link the HRC variant with arrhythmias causing sudden death.

The findings had previously been presented at the International Society of Heart Research’s Pathology and Treatment of Heart Failure meeting in Banff, Alberta, May 27 through May 31, 2012.