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HowToPreventHeartDisease.com |
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Faulty Gene Could Cause Heart Disease to Millions of People! Every year, an estimated 17 million people around the world die of cardiovascular diseases, particularly heart attack and stroke. Heart disease can be caused both by lifestyle and gene mutation. Scientists have long suspected that India, Pakistan, Sri Lanka and probably Bangladesh carry a large share of the global burden of heart disease. One recent study even predicts that by the end of 2009, India alone will account for 60 percent of the world's heart-related problems. An international team of 25 scientists and doctors from 4 countries had identified an unexpectedly common defect in a gene, MYBPC3, found exclusively among more than 1.5 billion people in or from South Asia, which is almost guaranteed to lead to heart trouble usually in the later part of those affected people’s life. The researchers also revealed in the paper they published in the journal Nature Genetics during Jan 2009 that 4 percent of the region's population or some 60 million people carry the mutation. The presence of the variant in 800 heart patients and 699 healthy individuals across India were checked in 2 separate clinical tests. Further tests in different parts of the country of 28 unrelated families carrying the mutation showed that more than 90 percent of the oldest members in each family had heart problems.
The deadly genetic variant is found across most of India's regions, its social castes, as well as its language and religious groups, but not among peoples from other parts of the world. In a follow-up sampling of more than 2,000 native individuals from 26 countries across 5 continents, the mutation was discovered in Pakistan and Sri Lanka, with some presence in Malaysia and Indonesia, but nowhere else. Young people can degrade the abnormal protein that is caused by the mutation and remain healthy. However, as they grow older the abnormal protein builds up and eventually results in symptoms including severe hypertension, an inflammation and weakening of the heart called cardiomyopathy, and death due to sudden cardiac arrest. The new findings do raise some doubts. For example, if the bit of missing genetic code is so harmful, how did it become so common? Meanwhile, why did it not die out over the course of evolution, as usually happens to maladapted genes? As explained by the researchers, the harmful effects are felt mainly late in life after people have had their children, so the mutation is essentially invisible to natural selection. When carriers have children, the genes would remain in the population. While many diseases occur during old age, very few are caused by a single mutation. Although the MYBPC3 variant would probably account for no more than 5 percent of heart disease in India, it would still affect tens of millions of people. The bad news is that many of these mutation carriers have no warning that they are in danger while the good news is that scientists now know the impact of the mutation. Nevertheless, the researchers believe that the findings should lead to better screening to identify those at risk, and may ultimately open the path for the development of new treatments.
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