University of Pennsylvania study clarifies the biological characteristics of common heart disease

Researchers at the University of Pennsylvania School of Medicine have made significant progress in the biological research of dilated cardiomyopathy (DCM).

"Titin" (pronounced "titan") is a behemoth in protein.

"These findings have changed our view of the gene form of DCM and provided new directions for our possible future treatments," said Zoltan Alani, MD, senior author of the study, who is Perel from the University of Pennsylvania.

Since DCM is a common and fatal disease, there is an urgent need for disease-specific treatments for DCM

However, due to a lack of understanding of the underlying biology of DCM, developing an effective therapy has always been a real challenge

In principle, these pathogenic mutations provide researchers with an opportunity to discover the details of how DCM occurs

In this new study, Arany and his colleagues solved this problem and found evidence to support these two mechanisms

Groundbreaking research

The myosin mutation usually associated with DCM is located in the myosin-encoding gene TTN, which is called a truncated variant of TTN, or TTNtvs

Alani and his colleagues examined 184 failed hearts that were removed from DCM patients during the transplant

In another new finding, the researchers determined that in the myocardium containing ttntv, the level of normal titin was reduced by about 30%, indicating that the lack of normal titin may also be one of the causes of the disease

This study also yielded many other findings, such as the observation that the severity of DCM does not seem to depend on the part of the TTNtv mutation affected by the TTNtv

"For example, if it turns out that these severed beta-tin is the main cause of trouble, we will want to design therapies to eliminate these proteins," Alani said