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Heart disease gene mutation affects 60 million worldwide
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11:59, January 27, 2009

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About 60 million people worldwide carry a gene mutation that causes heart disease, a new study has found.

The mutation, a deletion of 25 letters of genetic code from the heart protein gene MYBPC3, can lead to an enlargement or abnormal thickening of the heart muscle that weakens the heart and reduces its ability to pump blood, according to the study by a team of researchers from 25 countries.

The gene mutation, discovered five years ago in two Indian families with a history of cardiomyopathy, is most common among people in India, according to the study published in the January issue of Nature Genetics.

Heart disease is the leading cause of death in the world. By 2010, India will account for about 60 percent of the world's heart disease, said the study based on a DNA analysis of about 800 patients at cardiac centers in India.

The mutation leaves carriers with little warning of dangers. People with the mutation usually have few symptoms until middle age. But after that, most develop symptoms and are at risk for sudden cardiac death, said the study.

"The mutation leads to the formation of an abnormal protein," said study leader Kumarasamy Thangaraj at the Center for Cellular and Molecular Biology in Hyderabad, India. "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."

The study suggested genetic screening, which can identify carriers of the mutation at a young age.

It may be possible to develop drugs to combat the abnormal protein caused by the mutation and postpone the onset of symptoms, said the study.

Source: Xinhua



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