Genetic Mutation May Help in Developing New Drugs Against Cholesterol

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Genetic Mutation May Help in Developing New Drugs Against Cholesterol

Having a cholesterol in the body is normal but with a high level of cholesterol might increase the risk of having a heart disease / Photo by Crystal Light via


Cholesterol is a waxy substance that is found in the fats in the blood. However, having a cholesterol in the body is normal since the body uses it to build healthy cells but having a high cholesterol level might increase the risk of having heart disease. “Cholesterol is essential to life,” Henry J. Pownall, Ph.D., scientist and medical biochemist at the Houston Methodist Research Institute in Texas, said in an interview with the He also added that cholesterol is an important component in cell membranes and plasma lipoproteins, and a precursor to steroid hormones, which is used to regulate body function, and to bile acids, which is required for the normal digestion of many cell activities. Healthline also explained on one of their articles that cholesterol has two types, the low-density lipoprotein (LDL) cholesterol, and the high-density lipoprotein (HDL) cholesterol.


Low-density lipoprotein (LDL) is one of the five major groups of lipoprotein which transports all fat molecules around the body in the extracellular water. LDL is also considered as “bad” cholesterol because it can cause atherosclerosis, a fatty buildup in the arteries which are called plaque. Meanwhile, high-density lipoprotein (HDL) is the opposite of LDL since it is considered as the good cholesterol. It also carries cholesterol from the other parts of the body back to the liver, then the liver will remove the excess cholesterol from the body. When a person has a high cholesterol level, he/she might develop fatty deposits in the blood vessels which make it difficult to have enough blood flow through the arteries. The heart organ might not have enough oxygen-rich blood that it needs which increases the risk of a heart attack, and the decreased blood flow to the brain can also cause a stroke. Experts say that genetics are associated with having high cholesterol levels, but it is also a result of unhealthy lifestyle choices which could be prevented through having a healthy lifestyle.


What Causes Cholesterol?

Cholesterol is an essential substance which is produced by the body but is also ingested from animal-derived foods. However, too much cholesterol in the body could be a factor in developing heart disease which could endanger the life of a person and change the way how they live their life. The buildup of cholesterol in the blood veins could narrow the arteries, that is significant to the blood flow since it plays a vital role in the circulation system. Reducing the intake of fats might help in managing the levels of cholesterol in the blood. Experts suggested that the person with high cholesterol level should limit their intake of foods that contain saturated and trans fats, which are found in some meats, dairy products, chocolate, baked goods, deep-fried, and processed foods.


Furthermore, genetic factors are also one of the causes of having an abnormal level of cholesterol in a person. Familial hypercholesterolemia is the term used in defining the inherited condition which is characterized by higher than normal levels of LDL blood cholesterol. It causes up to 10 percent of early-onset coronary artery disease that occurs before the age of 55 years. explained that the cause is the mutation of the LDLR gene that changes the way the receptors develop, either in number or structure.



How Genetics Could Help in Combating Cholesterol

Medical experts have been trying different ways on how to solve the problem of the growing number of patients who are suffering from having high-cholesterol levels. They never fail to remind everyone to have a healthy lifestyle and have a regular check-up in order to prevent the early onset of the life-threatening condition. Likewise, in an online article published by the Stanford Medicine, they noted that there is a new study that digs into the genetics of cholesterol that might help the doctors in the future to discover or to modify the already-existing drugs to treat high cholesterol levels, cardiovascular diseases, and diabetes.


The study was conducted in collaboration with the Million Veteran Program, Tim Assimes, MD, Ph.D., associate professor of medicine, who analyzed the genetic data from almost 300,000 veterans. The researchers found 118 genetic markers of cholesterol and confirmed 188 that were previously known. Science Daily mentioned on their website that the scientists focus in on three mutations that distort the function of their respective genes. “The idea is to use genetic data linked to electronic health records from a very large number of individuals to find genetic variants that simultaneously improve lipid profiles and protect against cardiovascular disease,” said Tim Assimes, MD, Ph.D., associate professor of cardiovascular medicine.


“Amazingly, there’s a cheap, generic drug that I already use to treat my patients for vascular disease which also mimics the effects of the mutation in PDE3B on cholesterol levels, but no one paid attention to these side effects,” said Scott Damrauer, MD, assistant professor of surgery at the University of Pennsylvania and the Corporal Michael Crescenz VA Medical Center in Philadelphia. The drug called, cilostazol is typically used to treat the symptoms of blockages in leg arteries to improve how far people with the vascular disease can walk without pain. However, the scientists are trying to figure out the next step to investigate whether the same drug could wear multiple therapeutic hats.


A drug called, cilostazol is typically used to treat the symptoms of blockages in leg arteries / Photo by Molekuul_Be via




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