Researcher develops new possibilities to prevent sudden cardiac death

Researcher develops new possibilities to prevent sudden cardiac death
Assistant Professor of Biomedical Sciences Stephen Chelko, right, works in his laboratory with graduate student Maicon Landim-Vieira. Chelko’s lab has published research providing important new insights about arrhythmogenic cardiomyopathy, a leading cause of sudden cardiac death among young athletes. Credit: Mark Bauer/FSU College of Medicine

Nearly a half-million people a year die from sudden cardiac death (SCD) in the U.S.—the result of malfunctions in the heart's electrical system.

A leading cause of SCD in young athletes is arrhythmogenic cardiomyopathy (ACM), a genetic disease in which healthy heart muscle is replaced over time by scar tissue (fibrosis) and fat.

Stephen Chelko, an assistant professor of biomedical sciences at the Florida State University College of Medicine, has developed a better understanding of the pathological characteristics behind the disease, as well as promising avenues for prevention. His findings are published in the current issue of Science Translational Medicine.

Individuals with ACM possess a mutation causing arrhythmias, which ordinarily are non-fatal if managed and treated properly. However, Chelko shows that exercise not only amplifies those arrhythmias, but causes extensive . Their only option is to avoid taking part in what should be a healthy and worthwhile endeavor: exercise.

"There is some awful irony in that exercise, a known health benefit for the heart, leads to cell death in ACM subjects," Chelko said. "Now, we know that endurance exercise, in particular, leads to large-scale myocyte cell death due to mitochondrial dysfunction in those who suffer from this inherited heart disease."

Several thousand mitochondria are in nearly every cell in the body, processing oxygen and converting food into energy. Considered the powerhouse of all (they produce 90 percent of the energy our bodies need to function properly), they also play another important role as a protective antioxidant.

As mitochondria fail to function properly, and myocyte cells in the heart die, healthy muscles are replaced by scar tissue and fatty cells. Eventually, the heart's normal electrical signals are reduced to an erratic and disorganized firing of impulses from the lower chambers, leading to an inability to properly pump blood during heavy exercise. Without immediate medical treatment, death occurs within minutes.

Chelko's research gets to the of the process involved in .

"Ultimately, mitochondria become overwhelmed and expel 'death signals' that are sent to the nucleus, initiating large-scale DNA fragmentation and cell death," Chelko said. "This novel study unravels a pathogenic role for -induced, mitochondrial-mediated cell death in ACM hearts."

In addition to providing a better understanding of the process involved, Chelko discovered that cell death can be prevented by inhibiting two different mitochondrial proteins. One such approach utilizes a novel targeting peptide developed for Chelko's research by the National Research Council in Padova, Italy.

That discovery opens avenues for the development of new therapeutic options to prevent myocyte cell , cardiac dysfunction and the pathological progression leading to deadly consequences for people living with ACM.

Explore further

Drug treats inflammation associated with genetic heart disease that can be deadly in young athletes

More information: Stephen P. Chelko et al, Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy, Science Translational Medicine (2021). DOI: 10.1126/scitranslmed.abf0891
Journal information: Science Translational Medicine

Citation: Researcher develops new possibilities to prevent sudden cardiac death (2021, February 17) retrieved 1 July 2022 from
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Feedback to editors