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    • 01 DEC 14
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    University of Cincinnati Researchers Identify Genetic Variant Linked to Heart Malfunction

    University of Cincinnati Researchers Identify Genetic Variant Linked to Heart Malfunction


    Hong-Sheng Wang, MD | Evangelia Kranias, PhD | Jack Rubinstein, MD

    University of Cincinnati researchers Evangelia Kranias, PhD, Jack Rubinstein, MD, and Hong-Sheng Wang, PhD, are among the co-authors of a study recently published in 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.1

    The research by the 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 as a result of calcium inside heart cells that 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. The mechanisms and pathways that link the HRC variant with arrhythmias causing sudden death were identified.1


    The genetic alteration of Serine to Alanine at amino acid 96 in HRC is associated with sudden cardiac death in dilated cardiomyopathy patients. (Ninety-seven percent of SCDs occur within first two years of a seven-year follow up.)



    1. Singh VP, Rubinstein J, Arvanitis DA, et al. Abnormal Calcium Cycling and Cardiac Arrhythmias Associated With the Human Ser96Ala Genetic Variant of Histidine–Rich Calcium–Binding Protein. J Am Heart Assoc., October 2013.
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