NHS Leadership

Genetic Predisposition to Low Cholesterol Levels

According to a recent study, 1 in every 650 of us could be spared from suffering heart attacks and high cholesterol thanks to a particular genetic fault in our make-up.


The study involved the sequencing of the complete genetic code of a group of 22,000 participants. It transpired that 34 participant’s sequences were recognizable as containing these particular errors, errors that relate to the NPC1L1 gene. Most people have two copies of this gene but some have an inactive copy in the pair. The 34 people, who were discovered to have an inactive copy, also had correspondingly low levels of LDL cholesterol, i.e., ‘bad cholesterol’, and a protection against coronary heart disease. Overall, this meant that their cholesterol levels were 10% lower than members of the group who had two active copies. They also had better heart health.


This sort of research has a huge impact on how we develop treatments in the area of heart disease and cholesterol risk. Drugs that manipulate the NPC1L1 pathway already exist but it is not yet known whether they lower cholesterol solely, or work directly on heart health. This study will now inspire research that looks at targeting this gene directly. The 34 members with the genetic error were at half the risk of experiencing a heart attack compared to the other members.


One drug currently on the market for the treatment of high cholesterol, and already targeting this NPC1L1 pathway, is known as Ezetimibe It now looks likely be developed further in terms of its ability to work directly on this specific genetic information, in the hope of improving heart health in patients who do not have the genetic error. Cardiovascular illness is one of the major killers today and research and investment aimed at reducing the high number of heart attacks across Britain is much needed.


The drug currently in use does not work like statins. Statins are a class of drugs that work on the lowering of cholesterol by stopping the body from manufacturing it. Instead, Ezetimibe stops the gut absorbing the cholesterol consumed in the diet. It does this via the inhibition of the NPC1L1 protein. Therefore, it is already on the right track.


Studies like these show us the great potential for genetics and its role in the curing of disease. By targeting certain genes in the body, we can effectively remove risk and change the fate of our health. Gene inhibition could be the cure for a number of diseases and chronic illnesses relating to the heart. It is just a matter of time.


It is recommend that you get you cholesterol levels checked by your GP. There are now quite handy home test kits available to make monitoring as easy as possible.

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