Friday, October 3, 2008


Indians, 1.1 billion in number, are yearning for international glory through trail blazing achievements, be in sports or science or any other fields where giants like USA, China, Russia and EU have established near monopoly. Nobel Prize is one award the scientific community considers as the ultimate reward for high quality research and development. Probably this coveted award may yet come to India if some of the recent scientific endeavors confirm what is claimed to have been achieved as reported in the media.
Food has always been cited as the major culprit in many epidemic health disorders like myocardial infarction, type II diabetes, hyper tension and even some types of cancers. Almost like an astrological prediction, the findings by a group of scientists in Hyderabad, claim that 5% of Indians are susceptible to die out of cardiac arrest between the age of 45 and 60 years, not because of their fault but due to the genes they inherited from their parents. More painful is the possibility that one can predict one's own death by just analyzing a particular gene and currently there is no way to stop the catastrophic event through any known medical intervention. It is not much of a relief to know that food is not the culprit in such types of cardiac failures
According to the scientists of the only 5-star R & D Laboratory in the country, Centre for Chemical and Molecular Biology, Hyderabad depending on whether the embryo inherits homozygous or heterozygous chromosomes,the fate of the offspring born will be decided. Their findings that missing of a part of a particular gene, the myosin-binding protein C3 (myBPC3) is responsible for 45% of cardiac arrests reported in India, could revolutionize the understanding about this phenomenon and gear up for potential palliative measures. This defective gene causes formation of disorganized cardiac muscles eventually leading to cardiac arrests over a period of time. More alarming is the finding that 5% of Indian population suffer from this type of gene deficiency, with more concentration in southern India. If the embryo inherits such defective genes through the chromosomes from both the parents, called homozygous conditions, the offspring cannot be expected to survive the birth. But if one of the parents only has the defective gene which is passed on to the offspring, causing the heterozygous condition, the life expectancy is in the 45-60 years range, death occurring suddenly due to unpredictable cardiac arrest.   
Though there is no way one can prevent such deaths, even if the genomic study reveals the danger, the ever expanding knowledge about genetics and molecular biology may eventually find out a solution to this historical tragedy. The current hope is that if the gene defect is diagnosed at the fetus level, the parents have the choice of abortion in case of homozygous situation and if heterozygous condition is detected, the chord blood can be saved at birth for use in gene therapy to extend the life beyond 60 years, as and when such treatments become reliable in future. A social consequence of this startling discovery is the possibility of brides and bridegrooms in future asking for gene profiling to see whether they have the defective myBPC3 genes in them before agreeing for marriage and whether an HIV epidemic like situation is going to emerge where people with this particular defective gene are shunned by the society.  
If the above trail blazing research is truly original, the scientists deserve full credits and a Nobel Prize may not be too high a 'Prize' for this stellar achievement. The only lingering reservation is whether what has been reported is a replication of studies conducted with other populations else where in the world with research tools being same but subjects different. Even if this is a replicated study, as far as India is concerned the findings have sterling value and still deserves applause. 

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