Researchers Find Gene Mutation That May Protect Against Heart Disease
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The blue circle represents something called a Niemann-Pick C1-like 1 protein (NPC1L1). It sits at the apical surface of enterocytes and it promotes active influx (i.e., bringing in) of gut luminal unesterified cholesterol (UC) as well as unesterified phytosterols into the enterocyte. Think of this NPC1L1 as the ticket-taker at the door of the bar (where the enterocyte is the “bar”); he lets most cholesterol (“people”) in. However, NPC1L1 cannot distinguish between cholesterol (“good people”) and phytosterol (“bad people” – I will discuss these guys later, so no need to worry about it now) or even too much cholesterol (“too many people”). [I can’t take any credit for this anthropomorphization – this is how Tom Dayspring explained it to me!] This article is about a mutation in a single gene that is involved with heart disease. Some mutations can be negative for human life other mutations can result in a positive way of life for most people. This article explains that the mutation in a specific gene will reduce the risk of heart disease. All people have two copies of most genes, one inherited from each parent. The rare mutation occurs with the gene called NPC1L1. The single gene from NPC1L1 effects build of high levels of LDL cholesterol, which causes a narrowing of the heart’s arteries. The study shows that the people with the one inactive copy of NPC1L1 were given a fifty percent reduced risk of having a heart attack. Through studying a human being’s genetic road map, we can come to find many different cures for fatal diseases. "This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy," study first author Dr. Nathan Stitziel, a cardiologist at Washington University School of Medicine. The researchers after completing the study have estimated that 1 out of 650 have this inactive gene. Finding out more about these mutations can help lead us to have medications that specifically target different heart diseases. The NPC1L1 gene plays a major role in the process of cholesterol homeostasis. The helps move the cholesterol along the membrane, so it does not build up in the different arteries of the heart. The mutation in the gene effects the lipid transport and regulating the lipid metabolism. Source article: http://health.usnews.com/health-news/articles/2014/11/12/researchers-find-gene-mutation-that-may-protect-against-heart-disease |
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