Gene mutation behind protein that helps regulate cholesterol levels identified

A team of researchers affiliated with several institutions in China has identified a gene mutation that is at least partly responsible for regulating cholesterol levels in the bloodstream. In their paper published in the journal Science, the group describes how they tracked down the gene mutation responsible for the creation of a key protein involved in the process.

As the researchers note, low-density lipoprotein cholesterol (LDL-C) can build up in arteries, leading to heart attacks and strokes. For that reason, it would be helpful to know what causes it. Prior research has shown that genetics plays a factor in what happens to food containing LDL-C when it is consumed. But what genetic factors cause more of it to wind up in the arteries in some people and less in others? In this new effort, the researchers sought to learn more about such factors.

The study centered on analyzing the genes of a single family who all, save one, had abnormally low levels of LDL-C in their blood. The researchers were able to isolate a particular gene mutation that differed for the one unique individual—a gene mutation called LIMA1. Pleased with their findings, the group then conducted genetic testing on 509 people from a group called the Chines Kazakh—they are known to have low levels of LDL-C in their blood. The initial family came from this group. Analysis of the data showed that those individuals with low levels of LDL-C in their blood also carried the same gene mutation, and those without it had normal levels. A closer look revealed that the gene mutation was responsible for the production of a protein, which they called LIMA1. That protein, the researchers surmised, was a regulator of LDL-C.

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