An international team of scientists has linked childhood heart failure or dilated cardiomyopathy (DCM) to gene mutations.

The team which included scientists from the Centre for Cellular and Molecular Biology (CCMB), School of Medicine at Mount Sinai, New York, Japan and Italy, investigated a large number of DNA samples from patients having DCM and discovered the mutations in RAF1 gene. The findings were published online in the scientific journal, ‘Nature Genetics’.

DCM is a condition in which heart’s ability to pump blood is decreased because the heart’s pumping chamber becomes large and weak, according to a CCMB press release here on Tuesday.

The release said the cause of substantial percentage of DCM 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 RAF 1 mutations in three of the cohorts( South Indian, North Indian and Japanese)”, said senior principal scientist at CCMB and one of the senior authors of the study, Dr. K. Thangaraj.

He said the prevalence of RAF1 gene mutations was around nine per cent. Describing it as “quite high”, he said the scientists analysed DNA samples of both children and adults. But the mutated genes were predominantly among children. “Probably, it was causing sudden death. That’s why it was not found in adults”, he added.

“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 Icahn School of Medicine at Mount Sinai and lead author of the study.

Dr. Thangaraj said that in animal studies carried out in zebra fish in USA, it was found that the enlarged heart was reduced to normal size when treated with rapamycin.

CCMB Director Ch. Mohan Rao said that while lifestyle changes were contributing to alarming increase in heart and circulatory diseases, there were known genetic factors for heart diseases. The international team decided to investigate the DNA from people suffering from CDM and normal persons who do not have any heart disease.