A modifiable artificial heart allows researchers to study how gene mutations affect cardiac health.
For patients with cancer, tumor biopsies identify the type of disease that is present, which will determine the necessary treatment options. Unfortunately, this assessment is not available for patients with heart disease.
With thousands of Americans dying from heart disease each year, proper identification and treatment of the disease is critical.
In an attempt to address this problem, researchers from the University of Connecticut Health used a new system to study heart tissue in vitro. Through this novel system, the investigators are able to engineer heart-like structures with mutated cells common in cardiomyopathies that can lead to heart failure and death, according to a press release from the university.
“We basically try to rebuild a little piece of a patient’s heart in a dish,” said lead researcher J. Travis Hinson, MD.
During this process, the researchers combined cardiac muscle cells with fibroblasts, and other factors, such as extracellular matrix proteins. While these structures do not pump blood, they do contract like a normal heart, which allows investigators to study the “heartbeat.”
There are significant barriers to discovering additional knowledge about heart disease, especially when it comes to cardiomyopathies. Dysfunctional cardiac muscle either dilates and becomes large, or thickens. Dilation or thickening of cardiac muscles can impair cardiovascular function, and cause numerous diseases that can lead to poor quality of life and increased healthcare costs.
Dilated cardiomyopathy and hypertrophic cardiomyopathy can stem from mutations, previously experiencing a heart attack, or long-term hypertension, according to the press release. Research advances have identified more than 40 genes that are associated with cardiomyopathy.
However, it is extremely rare that genetic mutations that cause cardiomyopathy are shared by unrelated individuals, which adds a layer of difficulties for researchers who aim to determine the different genes and mutations attributed to heart disease. These barriers and others have prevented researchers from created novel treatments for cardiomyopathy, according to the press release.
“There really has not been a paradigm-shifting drug developed for heart failure in the last 20 years,” Dr Hinson said.
Currently, there are few existing treatments that address the disease itself, but rather control symptoms. With the new system, the investigators believe it can help uncover the effects of mutations on cardiac function, and may even lead to novel treatments.
The “heart-in-a-dish” system uses advances in stem cell and gene editing technology. The researchers can isolate skin and blood cells from patients with cardiomyopathy and create heart muscle cells, which allows them to study the biological effects of mutations, according to the university.
Interestingly, the researchers are able to correct mutations, or add additional mutations to further discover how cardiovascular health changes with each alteration. This will lead to an increased understanding of the disease, and may even lead to new treatments.
Since this approach can be used to study other forms of heart disease besides cardiomyopathy, drug discovery could benefit as well, since there is a platform that can be used to screen and test compounds, the press release concluded.