{"id":126,"date":"2014-12-01T22:04:23","date_gmt":"2014-12-01T22:04:23","guid":{"rendered":"\/cardiovascular-insights\/?p=126"},"modified":"2016-09-19T18:36:36","modified_gmt":"2016-09-19T18:36:36","slug":"university-of-cincinnati-researchers-identify-genetic-variant-linked-to-heart-malfunction","status":"publish","type":"post","link":"https:\/\/www.uchealth.com\/cardiovascular-insights\/university-of-cincinnati-researchers-identify-genetic-variant-linked-to-heart-malfunction\/","title":{"rendered":"University of Cincinnati Researchers Identify Genetic Variant Linked to Heart Malfunction"},"content":{"rendered":"
\"Heart-Malfunction-featured-image\"

Hong-Sheng Wang, MD | Evangelia Kranias, PhD | Jack Rubinstein, MD<\/p><\/div>\n

University of Cincinnati researchers Evangelia Kranias, PhD<\/a>, Jack Rubinstein, MD<\/a>, and Hong-Sheng Wang, PhD<\/a>, 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<\/sup><\/p>\n

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.<\/p>\n

“This is an extremely interesting finding and may have significant implications in heart failure treatment,\u201d 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.\u201d<\/p>\n

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<\/sup><\/p>\n

\"Screen-Shot-2014-12-03-at-3.00.27-PM\"

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.)<\/p><\/div>\n

 <\/p>\n

Reference:<\/h3>\n

1. Singh VP, Rubinstein J, Arvanitis DA, et al. Abnormal Calcium Cycling and Cardiac Arrhythmias Associated With the Human Ser96Ala Genetic Variant of Histidine\u2013Rich Calcium\u2013Binding Protein. J Am Heart Assoc., October 2013.<\/h6>\n","protected":false},"excerpt":{"rendered":"

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.<\/p>\n","protected":false},"author":45,"featured_media":170,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[10,12,5,11],"class_list":["post-126","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articles","tag-ama","tag-cardiomyopathy","tag-cardiovascular-insights","tag-heartfailure"],"aioseo_notices":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/posts\/126","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/users\/45"}],"replies":[{"embeddable":true,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/comments?post=126"}],"version-history":[{"count":8,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/posts\/126\/revisions"}],"predecessor-version":[{"id":264,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/posts\/126\/revisions\/264"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/media\/170"}],"wp:attachment":[{"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/media?parent=126"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/categories?post=126"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.uchealth.com\/cardiovascular-insights\/wp-json\/wp\/v2\/tags?post=126"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}