The Gene that Regulates Cholesterol

May 23, 2020 by Kamran Ahmed

Cholesterol plays a vital role in keeping the human body functioning. For example, it is a part of the cell membrane and is required for the production of certain hormones and Vitamin D. High levels of cholesterol in the body can, however, be risky. It can lead to atherosclerosis that involves the narrowing of the arteries due to excessive fatty plague, leading to a stroke or a heart attack.

The good news is that researchers have now identified the gene that regulates cholesterol levels in the body. Investigators have, in the past, worked on the genome-wide association studies that showed the correlation between specific characteristics and genetic variations.


Now, Prof. Brian Parks from the University of Wisconsin-Madison and his team have developed a novel technique that can help determine why some people are at higher risk of getting high blood cholesterol. The study relied on previous genome-wide association researches and animal studies.

The scientists used both human and mouse data to spot the gene. The experiment on mice showed 112 genes that aid in cholesterol production. The researchers then compared the data with human genome databases to identify areas where they overlap.

The study identified about 54 genetic overlaps between human and mouse genes. According to the investigators, 25 of the overlaps were prominent, as their role in the cholesterol production was largely unknown in the past.

While the results are significant, the research falls short of identifying individual genes responsible for high cholesterol levels.

"We can do these very large studies in humans of 500,000 people, and we can identify regions of the genome that are associated with, say, differences in blood cholesterol," says Prof. Parks. "But that just gives us kind of a lamppost to shine a light. It doesn’t tell us what underlying gene or pathway is potentially contributing to that association." Based on further research and clinical trials down the road, these findings can help doctors control the cholesterol levels in human beings by knowing the genes involved in the process. Furthermore, it could help reduce cholesterol production in people on a high cholesterol diet and those with genetically-induced higher blood cholesterols.
 

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