Researchers at the University of Maryland School of Medicine (UMSOM) have made a groundbreaking discovery that could help in the treatment of heart failure in youngsters. The team discovered novel gene mutations that lead to a rare disease that causes heart failure in children. They were then able to discover how the mutation works and apply medication to counteract its effects.
The researchers were able to identify the gene mutations responsible for the disease using genomic sequencing and identified mutations in the gene MYBPC3 that can cause heart failure in children. They then investigated the effects of these mutations in cardiac muscle cells that were produced from the patient’s stem cells.
The researchers were able to find a way to counteract the effects of the mutated gene using a medication called MYK-461. They discovered that the medication was able to restore normal heart function in the cardiac muscle cells produced from the patient’s stem cells.
The discovery is significant as it provides a new avenue for the treatment of heart failure in children. Heart failure is a condition where the heart is unable to pump enough blood to the body, and it can lead to a range of symptoms, including shortness of breath, fatigue, and swelling in the legs and feet. It is a leading cause of death worldwide.
The findings could help doctors to better understand the underlying causes of heart failure in children and develop more effective treatments for the condition. The researchers believe that the discovery could also have implications for other genetic diseases that affect the heart.
The study was led by Dr. Joseph Hill, the Chief of Cardiology at UMSOM, who said that the findings could “usher in a new era of precision medicine for patients with heart failure”. He added that the discovery “opens the door to developing new treatments for this disease that are designed to work with the patient’s own genetic makeup”.
The study was published in the journal Circulation and was supported by the National Institutes of Health and the American Heart Association. The researchers say that the next step will be to conduct clinical trials to test the medication in patients with heart failure.
This breakthrough discovery by the researchers at the University of Maryland School of Medicine could pave the way for more effective treatments for heart failure in children, as well as other genetic diseases affecting the heart.