Scientists from Center for Cellular and Molecular Biology (CCMB) Hyderabad along with international scientists from USA, Japan and Italy have discovered that mutations in RAF1 gene is the major cause of child hood heart failures.

For discovering this breakthrough finding, a team of scientists from CCMB, Hyderabad and School of Medicine at Mount Sinai, USA had conducted investigations on a large number of DNA samples from patients and compared them with the normal people and finally could discover that major cause of congenital heart failure in children is due to mutations in the gene called RAF1.

Explaining about the break through discovery, Dr Ch Mohan Rao, director of CCMB, Hyderabad said, “Heart disease is one of the major causes of death all over the world. In our country, life style changes are contributing to alarming increase in heart and circulatory diseases. In addition to life style there are known genetic factors for heart diseases. To identify the major reason behind the childhood heart failure, our scientists from CCMB collaborated with scientists from USA, Japan and Italy to form an international team and investigated the DNA from the people suffering from a particular type of heart disease called dilated cardiomyopathy (DCM) and compared them with the normal persons and could finally come to a conclusion that DCM is caused due to genetic mutations in the RAF1 gene.”

Dilated cardiomyopathy is a condition in which heart’s ability to pump blood is decreased because the heart’s pumping chamber becomes large and weak. “The cause of substantial percentage of dilated cardiomyopathy remains unknown. Therefore, we sequenced a total of 513 DCM patients and 1,150 ethnically matched controls from various cohorts and found rare and functional RAF1 mutations in 3 of the cohorts (South Indian, North Indian and Japanese)” said Dr. K Thangaraj, senior principal scientist at the Centre for Cellular and Molecular Biology and one of the senior authors of this study. He further stated that the prevalence of RAF1 mutations was approximately 9 per cent in childhood cardiomyopathy in these three cohorts.

“This is the first predominant gene for childhood DCM and importantly we have also identified rapamycin as possible therapeutic option for such conditions,” said Dr P S Dhandapany, Junior Faculty at the Icahn School of Medicine at Mount Sinai, New York.