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American Heart Association Funds UC Research on Hypertrophic Cardiomyopathy

American Heart Association Funds UC Research on Hypertrophic Cardiomyopathy

Published: 7/18/2017

Sakthivel Sadayappan, PhD, MBA, director of the heart branch of the UC Heart, Lung and Vascular Institute, has been awarded a $250,000 catalyst grant from the American Heart Association (AHA) to continue his research designed to identify people of South Asian descent who carry a genetic variant that predisposes them to hypertrophic cardiomyopathy (an enlarged and thickened heart).

"Hypertrophic cardiomyopathy is one of the major causes of sudden cardiac death,” says Sadayappan, a professor in the Division of Cardiovascular Health and Disease. "Those who die have cardiac arrhythmias. There is a link between the genetic defect, arrhythmia and sudden cardiac death.”

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, explains Sadayappan.

That variant was discovered by Sadayappan and a team of researchers at Max-Planck-Institute in Germany in 2001.

According to the AHA, hypertrophic cardiomyopathy occurs when cells enlarge in the heart and the walls of the heart ventricles thicken. Blood flow may be blocked to and from the ventricle as a result leading to a condition called obstructive hypertrophic cardiomyopathy. Sadayappan says a thickened and stiff ventricle can reduce the compliance of heart muscle, decrease preload (the heart’s preparation to squeeze blood through the ventricle) and lead to diastolic heart failure.

Several young athletes with hypertrophic cardiomyopathy have died after rigorous athletic performance garnering national attention around the condition.

Sadayappan says his grant from the AHA will allow him to collect 11,000 DNA samples from individuals in the United States and screen for the genetic variant. Then, 180 subjects with the genetic variant will be brought to UC Medical Center for an echocardiogram, ECG, clinical profiling and counseling. Identifying individuals with the genetic variant will allow researchers and medical staff to offer counseling and possible therapies to prevent or lessen the possibly of sudden cardiac death.

Three other researchers in the Sadayappan laboratory in the College of Medicine have also received awards from the AHA to compliment the work on hypertrophic cardiomyopathy at UC:

Mohit Kumar, MS, a PhD student in Pharmacology and Systems Physiology, received a two-year pre-doctoral fellowship of $53,688 for the research project, "Role of Myosin Binding Protein-C Phosphorylation in Cardiac Arrhythmias.” In addition to Sadayappan, Kumar’s sponsor includes Evangelia (Litsa) Kranias, PhD, Hanna Professor and Director of Cardiovascular Biology in the Department of Pharmacology and Systems Physiology.

James McNamara, PhD, received at two-year postdoctoral fellowship of $106,532 for the research project, "Cross-bridging the Gap: Using the N-terminus of Cardiac Myosin Binding Protein-C to Restore Cardiac Function.”

Shiv Kumar Viswanathan, PhD, received a two-year postdoctoral fellowship of $104,060 for the research project, "Unfolded Protein Response and ER-Stress in Hypertrophic Cardiomyopathy.”

Genetic mutations create an enlarged heart, and in some people, it can alter calcium handling in the heart and lead to individuals suffering arrhythmia and dying as a result. Kumar is trying to understand the connection between the genetic changes and calcium handling so that researchers can create therapies to prevent the arrhythmic occurrence, says Sadayappan.

Meanwhile, McNamara will focus on gene therapy to improve heart function in heart failure using animal models. During heart failure, cardiac muscle is damaged, and McNamara is attempting to put functional fragments of muscle specific proteins back into the heart to rebuild cardiac muscle and improve heart function, says Sadayappan.

Viswanathan is investigating whether the genetic defect associated with an enlarged heart is sufficient, in itself, to cause hypertrophic cardiomyopathy, says Sadayappan. There are several pathways implicated in the condition, and Viswanathan is focusing on a specific pathway known as PERK, or protein kinase RNA-like endoplasmic reticulum kinase. Viswanathan is looking at the activation of the pathway during which cardiac muscle size increases, says Sadayappan. The researcher is going to block the activation of this pathway in hopes of preventing hypertrophic cardiomyopathy in animal models. The knowledge gained can be applied to people with one or more genetic defects.

"The UC Heart, Lung and Vascular Institute is committed to improving patient care through high-level, fundamental research,” explains Richard Becker, MD, director of the institute and of the Division of Cardiovascular Health and Disease. "All current therapies used in the prevention and treatment of cardiovascular and lung diseases had their origin in the creative minds and imaginations of scientists like Dr. Sadayappan and his team. New therapies will emerge from a similar source of ideas and solutions.”

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