The latest medical studies reveal the underlying cause of heart failure in young children

A group of researchers at the University of Maryland School of Medicine were recently able to uncover the main cause of a rare type of heart failure in infants. These latest studies have identified a unique genetic mutation that causes heart failure in young children, where medical researchers have observed the function and behaviour of the genetic mutation. They have also discovered that it is possible to reverse the effect of this genetic mutation on heart muscle cells by using stem cells obtained from the patient. The scientific journal 'Circulation' has published the facts revealed by these studies for the first time. These studies have allowed the opportunity to improve a method that can cure this condition in young children by treatment without a heart transplant.

However, although many studies had conducted on heart failure in older people, there are very few studies on heart failure in children, so more attention could be paid to it in the future, said Dr. Charles "Chaz" Hong and Dr. Melvin Sharoky, a professor of physiology and director of the University of Maryland School of Medicine's Heart Disease Research Center, Who contributed to the research."Infantile dilated cardiomyopathy" is the leading cause of heart failure in young children. A sick baby suffering from such a condition has been found at a rate of 1 in 200000 births.

As a result of this condition, the heart's ability to pump blood adequately is reduced due to disturbances in the heart's function. Dr Hong and other medical researchers have discovered that this genetic mutation occurs in the protein produced in the cell structure called 'centrosome,' which contributes to the division of cells in the human body. Without the support of this protein, the heart cells cannot prepare properly. Therefore, the blood pumping by the heart gets hindered." Dr Hong and a group of researchers discovered that the mechanism of cell division is involved in heart muscle dysfunction. It was initially rejected as improbable. 

They believed that "once the heart cells matured, this cell division mechanism would disappear completely. But in further studies, it has been found that it moves to a new place in the cell and plays a unique role related to the function of the heart muscle. Here, heart cells taken from a patient undergoing a heart transplant had used to study this genetic mutation in infants. These medical researchers converted the heart cells obtained this way into primary cells, cultivated those cells in laboratory samples, and conducted the studies. There they determined that in a patient with this condition, there are two different genetic mutations, one gene mutation, each inherited from the patient's parents, and those mutations.

It is also encoded for the protein 'Rotatin'. Meanwhile, in their research, this same protein was removed from the hearts of zebrafish, and it was found that the hearts of those fish, like those of young children, also showed signs of failure. In addition, by removing the protein called 'rotatin' from the hearts of fruit flies, the researchers found that the heart and muscle cells in the hearts of those flies are irregularly organized like those of children.Due to this, the proper functioning of the heart will be disturbed. Matthew Miyamoto, a second-year medical student working under Dr Hong, who contributed to this research, has stated that this is the first human disease in the world to reveal that the centrosome interferes with the migratory activity of the cellular structure. 

Cardiac muscle cells in stem cells obtained from patients with such heart diseases are grown in research samples and increased in patients suffering from infantile dilated cardiomyopathy. It has been tried with the drug C19, which organizes the cellular structures called centrosomes in heart cells. Then it appeared that the drug had restored the structure of the heart muscle cells in the primary cells grown in the research samples and their ability to contract. A better understanding of the structure and functions of cells is of great importance for future cardiac regenerative therapies, said Dr Mark T. Gladwin, Dean of the University of Maryland School of Medicine. 

This latest biomedical discovery was greatly aided by the excellent collaboration between the cardiologists, medical student trainees and laboratory researchers who contributed to the studies and the realization that this discovery will one day lead to medical treatment for children suffering from this condition. Dr Hong further said that he and the research team hope that the findings will be helpful.