Protein repair defects linked to hidden heart failure

Researchers in the del Monte Lab at the Medical University of South Carolina (MUSC) are the first to observe defects in the protein repair system associated with the peculiar, misfolded protein plaques previously observed in patients with idiopathic dilated cardiomyopathy (IDCM).

IDCM is a heart muscle condition that can go unnoticed until patients are in advanced heart failure. The lab's latest findings, published in the Journal of Molecular and Cellular Cardiology and selected for an editor's choice and journal cover, shows a defect in the repair system of misfolded or damaged proteins. Through a comprehensive study of the three major branches of the repair system, they found changes in key alterations to the repair system machinery in the main branches. These alterations are called post-translational modifications, or PTMs. They concluded that the change in PTMs disrupted the system's ability to respond to misfolded protein stress signals.

When Federica del Monte, M.D., Ph.D., clinician-scientist at MUSC and senior author on the paper, found clusters of misfolded proteins in the heart that eventually led to her landmark 2010 discovery, she was working on a totally separate project.

Then, her experiments showed protein plaques in the heart that resembled those seen in the brain in Alzheimer's disease.