New gene mutation discovered as cause of heart failure in infants, and drug successfully reverses its effects.

Infantile dilated cardiomyopathy is a common cause of heart failure in infants, but its cause is often unknown. Researchers at UMSOM have now identified a new gene mutation that is responsible for this condition and have successfully reversed its effects in heart muscle cells derived from stem cells from the patient. The researchers discovered that the mutated gene normally encodes for a protein that is involved in the organization of centrosomes, which are cell structures that play a role in cell division and cell structure. Without this protein, muscle cells in the heart are unable to organize themselves neatly and do not contract as well, which leads to heart failure. The researchers then used a drug called C19, which is known to organize centrosomes in developing heart muscle cells, to treat the heart muscle cells derived from the patient with infantile dilated cardiomyopathy. The drug restored the organization of the cells and their ability to contract. This study is a major breakthrough in our understanding of infantile dilated cardiomyopathy and its treatment. The researchers hope that their findings will lead to the development of new drugs that can be used to treat children with this condition without the need for a heart transplant.