60 million carry mutation for heart disease

January 18, 3:49 PMScience News ExaminerMeg Marquardt

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A new report by an international team of scientists tells a scary story: Globally, 1% (or 1 person in 100) of the population carry a gene mutation that is almost guaranteed to lead to some form of heart problems.   The story is even worse in India where the prevalence of the gene mutation is closer to 4% of the population.

Heart disease is the world's deadliest ailment, killing more people a year than cancer or AIDS.  However, the Indian subcontinent faces the greatest battle of the heart disease war for "it is predicted that by 2010 India's population will suffer approximately 60% of the world's heart disease." [Eurekalert]  This means that for every 100 people who suffer from heart complications, 60 of them will be Indian.

Though heart disease can develop from lifestyle choices as well as genetic problems, this particular mutation in the MYBPC3, which consists of a 25-letter deletion of DNA data, has a sobering risk factor. "Scientists express this genetic risk as an odds ratio, where 1.2 would be a small effect and 2.0 a large one. For the MYBPC3 mutation, the odds ratio is almost off-scale, a staggering 7.0." [Eurekalert]  This translates into most people who have the mutation exhibit symptoms, ones that may eventually be life threatening.  

As described in this month's Nature Genetics, the mutation causes an abnormal protein that becomes more difficult to degrade as a person gets older, which is why the symptoms don't manifest until middle age.  It is thought that this is how the mutation has survived the process of natural selection: the symptoms don't start to affect a person until after child-bearing age, meaning the gene is passed on to progeny.  

However, knowing what this specific mutation can do is a great step forward in screening and protecting from heart disease.  Sir Mark Walport, Director of the Wellcome Trust, said, "This is a genetic finding of great importance. Heart disease is one of the world's leading killers, but now that researchers have identified this common mutation, carried by one in 25 people of Indian origin, we have hope of reducing the burden that the disease causes. This research should lead to better screening to identify those at risk and may ultimately allow the development of new treatments." [Eurekalert]

And with a possible market of 60 million people, a new treatment would be welcomed with very eager open arms.