NPC1L1: Heart Disease Protection

Jillian Cheselka


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.

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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.

Gene Mutations May Lower Cholesterol, Heart Attack Risk

Role of the Nurse

Being a nurse, it is our job to advocate for the patient. It is out of our scope of practice to give genetic counseling and tests, but we can provide our patients with the knowledge and information about specific genetic options they have to choose from. Knowing about specific genetic mutations (NPC1L1 gene), we could make references to the physician about a different route of therapeutic treatment in regards to the gene. Knowing about genetics as a nurse is important in the understanding our human body and where every glitch and bump comes from. Genetics is the basic of the human body, and as a nurse we need to understand every aspect of genetics in order to provide the best possible care for our patient.

Sum it Up!

When it comes down to it, new advancements in medicine are happening every day. Thousands of studies are being conducted that may or may not benefit individual people and the way they precede with life. A recent study I found delt with the discovery of a single gene mutation of NPC1L1, which lowers the amount of LDL absorbed. With lower levels of LDL, heart disease could be decrease by 50%. Not only is this a huge benefit to the body in general, but discoveries of this mutation can lead to further treatments patients can partake in benefiting their over all health. With regards to this new discovery, I now have the knowledge that not all genetic mutations are bad. I can further understand that with this LDL mutation, medical treatments can be changed to focus on the patient differently than those without the mutation. Discovering new mutations helps researchers understand how some disease start and where they come from. Other mutations can help researchers see how some diseases can be prevented. With a better understanding of where a disease comes from and how to prevent it, new drugs can be made to attack the "issues." Genetics is the basis of life, so knowing how genes work, how mutations can benefit or harm, or even how genes create us as individuals, can make all the difference in caring, treating, and understanding people. "This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy," (Predit).


Bridger, H. (2014, November 12). Defective NPC1L1 gene found to protect against heart disease. Retrieved November 16, 2014, from

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

Preidt, R. (2014, November 12). Researchers Find Gene Mutation That May Protect Against Heart Disease. Retrieved November 15, 2014, from