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About 67M carry heart mutation in India

Posted on: Wednesday, 21 January 2009, 22:38 CST

One percent of the world's population carries a mutation almost guaranteed to lead to heart problems and most live in India, researchers say.

The study, published in the Nature Genetics, found the mutation, a deletion of 25 letters of genetic code from the heart protein gene MYBPC3, is virtually restricted to people from the Indian subcontinent.

An international team of 25 scientists from four countries said the heart mutation affects about 4 percent of the population of India.

The mutation was discovered five years ago in two Indian families with cardiomyopathy, but its significance only became apparent after almost 1,500 people from many parts of India, some with heart disease and some without, were studied.

For the MYBPC3 mutation, the odds ratio is almost off-scale, a staggering 7.0, the study said. Carriers usually show few symptoms until middle age, but after that age most are symptomatic and suffer from a range of effects, at worst sudden cardiac death, the study said.

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

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.

Source: United Press International

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