 "CCMB team identifies rare mutations in heart disease seen in children")
A team of scientists from the Center for Cellular and Molecular Biology (CCMB) had found out the rare gene mutations in children affected with heart disease (commonly called dilated cardiomyopathy), the observations of which are published in the scientific journal Nature Genetics.
The study, which researched the samples of children and adults affected with cardiomyopathy from northern and southern India, Japan and Italy, found the prevalence of RAF1 gene mutations in the case of dilated cardiomyopathy (DCM) among the Indian and Japanese descendants. It found out prevalence of RAF1 mutations in 9 per cent of childhood-onset DCM cases.
Dilated cardiomyopathy is a state where the volume of heart's chamber gets enlarged resulting a drop in pumping of blood and non-maintenance of adequate pressure in the heart chamber.
The CCMB observation gathers key importance as 30-million Indians are suffering from heart disease every year.
In their pursuit to obtain therapeutic cure, "experiments on zebrafish using Rapamycin drug has yielded positive results in regulating the RAF1 mutations and achieving normal heart state," said Dr K Thangaraj, senior principal scientist, CCMB, Hyderabad. The team would later go for animal trails on rat and mice, he added.
Thangaraj said dilated cardiomyopathy is prevalent among children in the age group of 5-15 years and many of them die before turning into adults. CCMB started research on cardiomyopathy in 2005 and had published key findings in the subsequent years.
The study has been a concerted effort of CCMB; Department of Genetics and Genomic Sciences, Icahn School of Medicine, New York; Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh; Department of Advanced Zoology and Biotechnology, Loyola College, Chennai; Department of Pediatric Surgery, Tokyo Women's Medical University in Tokyo.