Can errors in a singles gene protect against heart disease?

            New research coming from Washington University School of Medicine in St. Louis, shows that rare mutations in shutting down a single gene, can be linked to lower cholesterol levels, and almost a 50% reduction in the risk of heart disease. This gene is called NPC1L1, which is often the main target in the drug, which is prescribed to lower cholesterol. As we all know, we inherit two copies of every gene, but those that only inherit one copy of this gene seem to automatically be protected against the high LDL cholesterol, which is also known as the "bad" cholesterol. This is the cholesterol that leads to coronary heart disease, which narrows the hearts arteries and leads to heart attacks. Nathan Stitziel a cardiologist from Washington University School of Medicine stated that "when people have one copy of a gene not working, it's a little like taking a drug their entire lives that is inhibiting this gene."
          Researchers used genetic data from large clinical trials to find individuals with the naturally occurring mutation in the NPC1L1 gene. They gathered 113,000 people total, and of these people only 82 were found to have the mutation that shut off one copy of the NPC1L1 gene. They were able to gather that only 1 in 650 people have this mutation of the gene. These individuals with only one working gene, had an average of 12 milligrams per deciliter lower  of LDL cholesterol, than a majority of the population. These people also did not appear to differ from a majority of the population, in blood pressure, body mass index and diabetes rate. Ezetimibe, which is a drug that helps lower cholesterol, inhibits the NPC1L1 gene,  and approximately has the same effect of only one working gene. While this drug is known for lowering cholesterol it is still a debate on whether it reduces heart disease. Stitziel then made a comment that "It's not possible to draw a direct conclusion about ezetimibe from this study, but we can say this genetic analysis gives us some confidence that targeting this gene should reduce the risk of heart attack. Whether ezetimibe specifically is the best way to target NPC1L1 remains an open question."
          We usually think that having a mutation to a gene or only having one copy is bad or harmful to us, but in this case I think it could be a good thing. Those that have this mutation have less of a risk of heart attacks and coronary heart disease, which in the long run is a very helpful to us.

Original Link: http://www.medicalnewstoday.com/releases/285363.php
Related information: http://www.medicalnewstoday.com/articles/184130.php