Researchers from the University of Barcelona have identified a molecular mechanism involved in the regulation of cholesterol in cells. This is a fundamental process for the proper functioning of cells, which can help against diseases that cause lipid accumulation. For example, dia is present in Niemann-Pick disease type C.
The study was led by Carles Enrich and Carles Rentero, who relied on the CRISPR-Cas9 genetic editing technique. Cholesterol serves to organize the membranes and modulates some of the fundamental functions of the cells. To regulate cholesterol, cells have developed molecular mechanisms that we understand only in part. Unraveling how they work could help us find new treatments, so as to avoid the harmful consequences of cholesterol and other lipid accumulations.
Diseases such as Niemann-Pick are in fact caused by excess lipids inside the cells, which cause alterations of the nervous system and internal organs. Niemann-Pick is caused by an alteration of the NPC1 gene. To study the related mechanisms, researchers used genetic editing to block a molecule - AnxA6 - in diseased cells. The block resulted in a release of excess cholesterol, demonstrating the role of the protein in the regulation of cholesterol and lipids.
The study shows that the release of cholesterol is linked to an increase in membrane contact sites. According to the authors, in the cells of sick patients there are too few of these sites. Silencing AnxA6, on the other hand, causes an increase in the same which reduces the effects of the anomaly in NPC1.