Heart gene affects one per cent

Monday January 19th, 2009

As many as one per cent of the world's population carry a newly-discovered heart disease gene, it was announced last night.

"Most" of these originate from the Indian sub-continent, where it affects all religions, castes and languages and in total four per cent of the population, researchers have reported.

People who carry the gene mutation, known as MYBPC3, have a "staggeringly" high risk of developing serious heart disease after middle age, according to the report in Nature Genetics.

Scientists first identified the gene five years ago when it was identified in two Indian families with the heart condition cardiomyopathy.

Research sponsors the Wellcome Trust describe the finding as of "great importance", enabling carriers to take steps to prevent the development of disease.

Researcher Perundurai S. Dhandapany, of Madurai Kamaraj University, Madurai, India, said: "The bad news is that many of these mutation carriers have no warning that they are in danger but the good news is that we now know the impact of this mutation."

Chris Tyler-Smith, from The Wellcome Trust Sanger Institute, Hinxton, UK, said: "We think that the mutation arose around 30,000 years ago in India, and has been able to spread because its effects usually develop only after people have had their children. A case of chance genetic drift: simply terribly bad luck for the carriers."

Researcher Kumarasamy Thangaraj, from the Centre for Cellular and Molecular Biology, Hyderabad, India, explained: "The mutation leads to the formation of an abnormal protein. Young people can degrade the abnormal protein and remain healthy, but as they get older it builds up and eventually results in the symptoms we see."

Dhandapany PS et al. (2008) A common Cardiac Myosin Binding Protein C variant associated with cardiomyopathies in South Asia. Nature Genetics Published online before print as doi: 10.1038/ng.309

Tags: Asia | Genetics | Heart Health | UK News | World Health

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