Study Shows That Mutations in Adhesion Proteins Cause Arrhythmogenic Cardiomyopathy

In Education

A new study has found that adhesion protein mutation disrupts the integrity of the out layer of the heart and makes patients susceptible to sudden cardiac death. The outer layer of the heart is the epicardium. It surrounds the myocardium, the thickest and most contractile muscle of the heart.

ACM is not easily detectable 

Arrhythmogenic cardiomyopathy (ACM) is a cardiac condition that often begins in adolescence or early adulthood. A primary symptom of the disease is ventricular arrhythmias. When someone has an arrhythmia, their heartbeat is too fast or slow because electrical impulses are not working efficiently. People with ACM are at a higher risk for lethal arrhythmias.

The symptoms of ACM are rarely visible. The most common signs of having the disease include fainting and heart palpitations. However, sudden death often occurs before someone knows they have ACM. Athletes are often seen dying during a game due to ACM.

Past studies have shown that the disease is genetic. Moreover, males are more likely to develop it than females. However, it was only recently that scientists discovered how specific genes could leave one susceptible to the disease.

Scientists have discovered that mutations in adhesion proteins of the heart, which holds cardiac cells together, can undermine the organ’s integrity, thus causing ACM.

Mutations in the desmosomal gene can affect the integrity of the epicardia

Researchers from the Hubrecht Institute of the Royal Netherlands Academy of Arts and Sciences in Utrecht, Netherlands, conducted a series of studies that looked into the genetic disease and found a potential customized treatment. The team traced the origin of the illness to desmosomal genes, which code for adhesion proteins.

Desmosomes have glue-like consistency. They play a role in maintaining the integrity of tissues. They are adhesive complexes that consist of several proteins. A lot of these proteins could have deletion type of mutations in ACM.

The scientists focused on the epicardium as it differentiates and proliferates into other types of cells thought life.  Their differentiation of this layer depends on support proteins integrity. Desmosomes are especially crucial in maintaining epicardia integrity hence why the researchers believe ACM begins in this layer. This discovery was surprising as the effect of the disease is seen primarily on the myocardium.

Mobile Sliding Menu

Comparisonsmaster