NPC1L1: Heart Disease Protection
A gene is a specific set of instructions cells utilize in order to make a protein. A gene is the molecular unit of heredity in a living organism. A gene is both a physical and function unit. What if there was a disruption to a gene- a tiny disruption that could change those sets of instructions in the simplest of ways? Genes have mutations- a change in the genetic structure- and some of these mutations can be beneficial, while others can be detrimental to our body as a human creature. Recent studies are indicating that a specific mutation of the NPC1L1 gene can have beneficial factors in relation to the development of heart disease. NPC1L1 is involved in cholesterol absorption, and the carriers of this rare gene have shown lower values of cholesterol absorption in his or her body. There is a direct proportion to cholesterol absorption and LDL levels- a decrease in cholesterol absorption causes a decrease in LDL levels. "We know that LDL is one of the key drivers for coronary heart disease," (Bridger). This study analyzed about 113,00 individuals and their genes, in search of NPC1L1 gene mutation. “People with one inactive copy of the gene have a 50 percent reduced risk of heart attack,” (Preidt). The recent studies show that about 1 in 650 have this NPC1L1 gene mutation.
Why this is Worthy
Understanding the benefits of the NPC1L1 gene is worthy because it can benefit us from developing heart disease. Heart disease is the number one leading cause of deaths in both men and women, and with this gene the levels of LDL decrease, which will over all lead to benefitting results. LDL is known as “bad” cholesterol, and with lower rates of absorption, the hopeful outcome will be lesser values of heart disease. Being able to identify and understand that not all mutations are bad is a great advantage for any medicine practice. People who work in medicine thrive on new advancements, new discoveries, and ways to benefit a persons overall health. This NPC1L1 mutational discovery is uprising and changing the way heart disease is being developed in humans- this seems pretty worthy to me.
Future Medicine Practices
Along with the NPC1L1 gene, there have been other recent discoveries of gene mutations that have shown to benefit against disease, such as the PCSK9 and APOC3 genes. With finding these beneficial gene mutations, further advancements of medicine and treatments can be made. “Protective mutations like the one we’ve just identified for heart disease are a treasure trove for understanding human biology,” (Bridger). Discovering a certain mutation, different therapeutic treatments can be used as a benefit. Future medicine practices can only become more advanced with the knowledge of how this mutation works on our body, in knowing which medical and therapeutic routes to take. These mutations can teach researchers about what certain genes can cause a disease, and how to target drugs against these causes. This information is fairly new in discovery, which means the future of this mutation will be forever evolving and more and more beneficial with treatments in time.
Role of the Nurse
Sum it Up!
Bridger, H. (2014, November 12). Defective NPC1L1 gene found to protect against heart disease. Retrieved November 16, 2014, from http://www.broadinstitute.org/news/6197
Polisecki, E. (2010, May 1). Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly[S]. Retrieved November 17, 2014, from http://www.jlr.org/content/51/5/1201.full
Preidt, R. (2014, November 12). Researchers Find Gene Mutation That May Protect Against Heart Disease. Retrieved November 15, 2014, from http://health.usnews.com/health-news/articles/2014/11/12/researchers-find-gene-mutation-that-may-protect-against-heart-disease