Mutation gene for heart disease found
Mutations in the gene RAF1 associated with DCM were observed only in children
Hyderabad: In a major breakthrough, scientists from the city-based Centre for Cellular and Molecular Biology and other institutes have identified a gene, mutations in which are predominantly responsible for Dilated Cardiomyopathy in children.
The exact cause of DCM still remains a mystery, but the identification of the pathway means experts are also able to suggest therapeutic options for treatment.
DCM affects one in every 250 persons and eventually causes heart failure. The onset of the disease has been noticed in children as young as 8 years.
The most interesting finding of this study is that the mutations in the gene RAF1 associated with DCM were observed only in children and not in adults.
Dr K. Thangaraj, senior principal scientist, CCMB, and one of the authors of the study, said, “We have observed mutations in RAF1 predominantly in children. So it could be that the affected children may be dying much before adulthood. The earliest age of onset we observed was 8 years, but there could be cases with age much lesser than that.”
While the genetic pathways in about 40 per cent cases of this disease are known, this is the first genetic mutation to be observed exclusively in children.
The study was conducted by Dr P.S. Dandapany, Icahn School of Medicine, and others from institutes in the US, Japan and India.
Results of the study were published in the latest issue of the prestigious Nature Genetics journal.