Identifying Genetic Variant Key to Treating Hypertrophic Cardiomyopathy

UC Health News

NEW ORLEANSEarly screening for a genetic variant that predisposes people of South Asian descent to hypertrophic cardiomyopathy (an enlarged heart) could help reduce the incidence of sudden cardiac death in this population, says a University of Cincinnati College of Medicine heart researcher.The South Asian population, encompassing about 1.8 billion people globally and 1 percent of the U.S. population or 4 million people, is more likely to carry a genetic variant of myosin binding protein C, cardiac (MYBPC3), which organizes heart muscle structure and plays a role in hypertrophic cardiomyopathy, says Sakthivel Sadayappan, PhD, professor in the Division of Cardiovascular Health and Disease.That variant was discovered by Sadayappan and a team of researchers, at Max-Planck-Institute in Germany, in 2001.”If you have Type 2 diabetes, or if you have hypertension and if you also have this genetic variant you have greater chances of having severe heart disease, says Sadayappan, director of the Heart Branch of the UC Heart, Lung and Vascular Institute.In the U.S., Sadayappan and his research team have screened 1,928 individuals and found that 118 people carry the genetic variant (MYBPC3). He says 4 to 5 percent of South Asians (individuals with Indian, Pakistani, Nepali, Bangladeshi, Afghan and Sri Lankan descent) carry the generic variant of MYBPC3. “The normal protein, MYBPC3, regulates how much force the heart muscle can generate; it controls the speed of heart and we call it a heart break protein, he explains.Sadayappan will present the research poster titled, “A Polymorphic MYBPC3 Variant as a Major Risk Factor of Cardiomyopathy in South Asian Descendants, at the American Heart Association Scientific Sessions, held Nov. 12-16, 2017, in New Orleans. A related article, “Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants was published in the October edition of the journal Frontiers in Physiology. Co-authors in that publication include Jessica Kraker, a UC cardiology research assistant; Shiv …

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