Dilated cardiomyopathy is a heart condition caused by a mutation in the RBM20 gene. This heart condition is unique because it can affect young adults. These individuals are at an increased risk for sudden death.

Heart failure due to this condition was long attributed to abnormal splicing of genes. However, a new discovery has shown that there is different way that the mutated RBM20 can damage the cells of the heart muscle.

Researchers found the clumping of RNA-binding proteins, which has long been linked to neurodegenerative conditions, in the heart tissue of patients with dilated cardiomyopathy.

The Study

Gene editing has allowed researchers to create a model of dilated cardiomyopathy in a pig model which resembles the clinical presentation of human heart failure.

Testing the pig’s heart tissue, researchers found clumps of the RNA-binding protein. After this discovery, the team examined archived samples from human patients and confirmed what they had found in the animal model.

What this means is that RBM20 is a RNA-binding protein granule disease. That means that it is similar to amyotrophic lateral sclerosis, as well as Alzheimer’s disease.

In previous studies of these protein granules, they have only been discovered in the spinal cord, the brain, or in rare skeletal muscular conditions. This is the first time that they have been found in the heart.

A benefit of this discovery is that the heart is easier to study than the spinal cord or the brain. But even more beneficial, this discovery, in a disease that affects the young, will allow researchers to study therapies that can inhibit the accumulation of the granules from the very start of life, even before disease occurs. This on its own can accelerate research and hopefully drug discovery for all diseases affected by this mechanism.

You can read more about this study here.