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Discovered a gene predisposition to heart disease

September 9, 2009

Discovered a gene predisposition to heart disease
60 million people worldwide are carriers of genetic mutation, which almost inevitably lead to the development of their heart disease.

According to a study published in the journal Nature Genetics, carry such a mutation is about 4% of the population of the Indian subcontinent. The risk of these people have heart disease about seven times higher than that of the holders of the healthy gene.

According to representatives of the international team of scientists who conducted the study, is extremely rare to find so common genetic disorder, which has, moreover, is so unpleasant consequences.

Heart disease – the main cause of mortality in the world, especially in India, where the problem in the coming years will be even more acute.

According to the World Health Organization estimates that by 2010 about 60% of all people suffering from diseases of the cardiovascular system, will be living in India.

Incorrect protein

For the first time scientists have discovered a gene mutation responsible for the production of a protein MYBPC3 (it is contained exclusively in heart tissue), five years ago in two Indian families whose members suffered from cardiomyopathy – a disease which leads to the defeat of the heart muscle.

For a more comprehensive study was drawn 800 patients suffering from heart disease in the control group included 700 volunteers. His results showed that the genetic mutation of this kind are fairly common and occurs approximately every hundredth person.

The risk of developing diseases associated with the cardiovascular system, in carriers of a mutant gene jumping seven times, which means almost inevitable occurrence of the disease.

Under laboratory conditions, researchers have demonstrated that heart cells, carries the mutation, which falls 25 letters of the genetic code that produces a defective protein MYBPC3, which violates the structure of cardiac muscle.

According to scientists, people younger organism successfully coped with the “breakdown” and restoring the proper structure of the protein.

However, in adulthood, this mechanism starts to work worse and worse, which leads to the development of cardiovascular disease.

How to outwit the evolution

Chris Tyler-Smith, a member of the British Institute, Wellcome Trust Sanger Institute believes that this genetic mutation, likely, probably arose roughly 30 thousand years ago,

Unlike most other negative genetic mutations, which are disappearing as a result of evolution, this has been successful in spreading, as most of its consequences affect human health only after his children were born.

“Usually, mutations or widespread, but it does not have a significant impact on health, or, conversely, have, but not so widespread – he said. – Surprisingly the combination of such a significant impact on health and the spread of such a high” .

According to him, in principle, very easy to test young people in the presence of mutations. But the problem is that effective methods of treatment has not been found and all that the doctor may advise the holders of a mutant gene – a healthy lifestyle.