Several previous posts have tackled about the increased incidence of CVD in people of Indian Asian origin.
Heart disease is globally, the number one cause of mortality. However, the incidence of CVD in India has been observed to be even higher than the rest of the world. It is predicted that 60% of heart disease cases in 2010 will be diagnosed in India alone.
Indian geneticists have now found the most likely reason for this and it is called genetic mutation. According to the study published in Nature Genetics, “1% of the world’s population carries a mutation almost guaranteed to lead to heart problems and most of these come from the Indian subcontinent, where the mutation reaches a frequency of 4%.”
The genetic mutation is a deletion of 25 letters representing amino acids in the genetic code of the heart protein gene MYBPC3. It supposedly started in the Indian subcontinent 30,000 years ago. This genetic aberration seems to be unique to people from and is found in 1 out of five member of the population. In such a culturally varied and very large population such as India’s, the mutation does not recognize caste, ethnic or religious differences. It is estimated that 60 million people in India have the mutation.
According to study leader, Kumarasamy Thangaraj from the Centre for Cellular and Molecular Biology, Hyderabad, India
“The mutation leads to the formation of an abnormal protein…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.”
Usually, genetic mutations which lead to death eventually “die out.” However, the MYBPC3 mutation managed to persist over thousands of years because of the late onset of symptoms, usually beyond the middle age. By the time heart disease develops overt symptoms and causes mortality, the affected individuals have already reproduced and have passed on the mutation to the next generation.
It is only very recently, with the advancement of the field of genomics that identification of genetic aberrations such as reported here is made possible.
So now that the culprit has been identified, what is the next step?
Well, that the cause is know, screening for the genetic aberration can be identified early in life so that management strategies such as a lifestyle designed to mitigate the risks, symptoms and complications can be also implemented early.
The lifetime risk of developing heart failure is roughly one in five for a person aged 40 years. Now that this mutation has been identified, there is a new glimmer of hope for some of them. The mutation’s effects vary a lot from person to person. Carriers could be identified at a young age by genetic screening and adopt a healthier lifestyle.
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