Hyderabad, Apr 29 ANI | 6 months ago

An international team of scientists from India, the US, Japan and Italy will together investigate the DNA of the people suffering from a particular type of heart disease called Dilated Cardiomyopathy and from the normal persons, who do not have any heart disease.


Dilated Cardiomyopathy is a condition in which heart's ability to pump blood is decreased because its pumping chamber becomes large and weak. The international team including the Centre for Cellular an Molecular Biology, Hyderabad and School of Medicine at Mount Sinai, New York, the US, by investigating a large number of DNA samples from patients who have DCM had discovered mutations (variations in DNA sequence) in a gene known as RAF1.

These findings were just published in the scientific journal Nature Genetics, according to Dr Ch Mohan Rao,CCMB director. Heart disease is one of the major causes of death all over the world,and in India life style changes are contributing to alarming increase in heart and circulatory diseases, Dr Rao said.

'The cause of substantial percentage of dilated cardiomyopathy remains unknown. Therefore, the study team sequenced a total of 513 DCM patients and 1,150 ethnically matched controls from various cohorts and found rare and functional RAF1 mutations in three of the cohorts (South Indian, North Indian and Japanese)', Dr K Thangaraj, Senior Principal Scientist at the CCMB and one of the senior authors of the study said.



He said that the prevalence of RAF1 mutations was nine 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," Dr P S Dhandapany, Junior Faculty at the Icahn School of Medicine at Mount Sinai, New York, the US, and lead author of this study said.

(Posted on 29-04-2014)

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