Aurora magazine

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.

Source: medicalxpress.com

The 2020 Tokyo Olympics could use genetics to identify who is dopa. President of the Olympic Commission Thomas Bach announced this. The new technology is able to detect traces of illicit substances even months after intake. A blood sample is enough and a few hours to get the results. In order for it to actually be used during the Olympics, however, the test must first be approved by the World Anti-Doping Agency.

Genetic testing is an idea of ​​Professor Yannis Pitsiladis, who specializes in sports medicine and genetics at the University of Brighton. The technology has been in production since 2006 and should be ready by now. His team members have indeed tested the test with groups of volunteer athletes, so far with excellent results. The test was able to identify both the use of prohibited substances and any illegal transfusions.

According to Pitsiladis, the test will give a breakthrough to the fight against doping. Even if it were not validated in time for the 2020 Olympics, it will still be one of the protagonists of the event. In fact, scientists will take the opportunity to collect as many samples as possible, so that they can be analyzed later. This will add to the fact that the planned pre-Olympics test program will be the largest ever planned.

Members of the World Anti-Doping Agency and the author of the study are confident that this will help to discourage doping. Furthermore, such a test could reduce the risk of events similar to the Russian doping scandal in 2015.

Source: theguardian.com

A team from the University of California examined fetal retina cells at different levels of development. Analyzes show that in the second trimester, long before being able to distinguish images, the fetus is able to perceive light. According to the researchers, this could influence the development itself.

The cells of the retina that perceive light develop within the second trimester: it was already known. Until now, scientists considered them a tool of the fetus to align with maternal rhythms. Instead, these cells communicate with each other and give the eye greater sensitivity than was previously believed.

Retinal ganglion cells send messages through the optic nerve to the brain. In a developing eye, functioning cells are about 3% and communicate with different areas of the brain. Some of them interface with the areas responsible for the wake-sleep cycle. Others send the signals that regulate pupil movements. Finally, these cells connect with the areas that regulate mood and emotions.This last fact surprised the scientists.

Starting from the analyzes on mice and monkeys, the scientists analyzed the role of ganglion cells in fetal development. They could even be the basis of migraines, or explain why light therapy helps against depression.

Source: berkeley.edu

Total genetic sequencing can diagnose an intellectual disability better than any other tool. Researchers at the Karolinska Institutet in Sweden say this. Scholars have developed analytical tools that they will use for the first time for clinical diagnosis. If all goes well, sifting through the over 800 possible diagnoses available today will be much easier. About 1.5% of Swedes suffer from some kind of intellectual disability, often caused by genetic aberration.

Sometimes this consists of a small anomaly in individual genes, others in complex mutations involving multiple genes. Current genetic tests help to find the right diagnosis in about 12% of cases. The study in question analyzes a new approach.

Researchers have developed their own analytical tool, which they combine with total genome sequencing. The tool carries out more tests, simultaneously with sequencing. In this way, the researchers were able to diagnose about 27% of the patients who had taken the test. Everything took less time, less money and gave better results.

Dr. Lindstrand explains that it is all thanks to the increasingly advanced sequencing technologies. By now, total genome sequencing has become cheap enough to be used on many more occasions. This allows you to develop new tools, so as to speed up and improve diagnoses.

Source: eurekalert.org