Monday, February 20, 2012

Its a viral protein that helps you grow healthy in mother's womb.....Amazing!!!


We all know how bad viruses are. From common cold to the deadly AIDS, they affect us in many ways. But it is amazing and startling to know the fact that they have played a crucial role in our (human) life cycle. If not for these certain viruses, we would be hatching out of eggs like birds or reptiles. In the year 2000, a group of scientists from Genetics Institute Inc., Cambridge, Massachusetts identified a new human gene that expresses a protein called syncytin. Though Syncytin gene is a part of human genome now, it has been incorporated there by viruses. This original viral protein would be expressed by the invading virus to spread along the host body and cause infection. However, the protein served a different function for the human or more precisely mammals by forming placenta. Placenta is the connecting tube between a growing fetus and the mother’s uterus which serves nutrient uptake and ensures fetal development.  It is believed that human or mammalian placentae are formed by fusion of the cytotrophoblast cells through expression of syncytin. If there were no viral gene syncytin, there would have been no placenta formation. Several forms of syncytin are being discovered in different mammalian species piecing together the story of evolution. Not just syncytin, there are several other genes that make up the human DNA accounting for atleast 8% of human DNA.

Wednesday, February 1, 2012

Drug for a genetic disease - more and more are sure to come.


Cystic fibrosis causes the body to produce an unusually thick, sticky mucus that clogs the lungs and obstructs the pancreas and stops enzymes from helping the body break down and absorb food. These patients are prone to infections and progressively lose the ability to breathe. The disease is caused by genetic mutations in a gene called cystic fibrosis transmembrane conductance regulator (CFTR) which regulates the transport of chloride and water in the body. The US Food and Drug Administration has approved "the first therapy to treat an underlying cause of cystic fibrosis”. The drug targets the most common mutation in the gene and restores the function (of CFTR protein) and not the symptoms of it. Approximately 4% of cystic fibrosis patients can be benefitted from this expensive therapy costing $294,000 a year.