A team of researchers from different Chinese institutions has identified a genetic mutation that, in part, favors the regulation of cholesterol levels in the bloodstream. In an essay published in the journal Science, this group of experts in life sciences, pathogenesis and molecular biology describe how the aforementioned mutation originates a key protein in this process.
Cholesterol is an essential molecule for life; Among other substances, it intervenes in the production of different hormones, bile salts or vitamin D. However, when it is deposited on the walls of the arteries, it can cause them to harden or narrow, which is known as atherosclerosis. This is one of the most common causes of many heart disease and stroke. Well, most of the cholesterol in the blood is made up of low-density lipoproteins (LDL-C), which is known as “bad” cholesterol. The higher its levels, the greater the risks of suffering any of the aforementioned conditions.
Diet can also affect cholesterol levels – some foods, such as red meat or certain dairy products contribute to its increase – although different studies have shown in recent years that genetics also play a role in this. Now, these scientists are trying to elucidate which genetic factors cause it to accumulate more in the arteries of some people and less in those of others.
With cholesterol on the floor
His work focused on the analysis of the gene pool of a family in which all its members, except one, had abnormally low levels of LDL-C in the blood. According to the researchers, they were able to isolate a very specific genetic mutation, which differed in that individual. Encouraged by the results, they decided to expand their study and carry out genetic tests in 509 people of Kazakh ethnicity, in whom, likewise, these low-density proteins tend to be present to a lesser extent and to which the aforementioned family group also belonged.
Analysis of the data showed that individuals with low levels of LDL-C in their blood also had the genetic mutation they had detected. In those who did not have it, they were normal. A detailed study revealed that it was involved in the production of a protein, which they named LIMA1. This, the researchers deduced, functioned as a regulator of LDL-C.
To try to dig deeper into this matter, they conducted further studies, in this case in mice. In this way, they found that the protein seemed to be expressed in the small intestine. In a statement, those responsible for the finding also point out that the protein in question can be synthesized, which, in the future, could be used to develop new drugs capable of reducing cholesterol levels and the risk of suffering from some of the diseases related to that phenomenon.
Reference: A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption. Ying-Yu Zhang et al. Science. DOI: 10.1126 / science.aao6575
Image: Scientific Animations / CC
