Aurora magazine

Thanks to the English health service, total genetic sequencing is now available to thousands of babies. The test serves to facilitate the diagnosis of some of the most common rare diseases, so as to intervene from the first hours. This could change the lives for the better of hundreds of babies and children, allowing them to immediately receive ad hoc care.

Total exome sequencing has become routine since October and has already helped dozens of small patients. NHS - England estimates for the new year are even more positive: the test could help over 700 children in 2020 alone. This particular type of genetic test in fact doubles the chances of diagnosing a genetic anomaly. It takes just a few days to get the results, reducing the time significantly.

How is this particular type of sequencing different? Classic tests focus on genes linked to particular genetic diseases. The total sequencing of the exome, on the other hand, examines a wide range of risky variations in one go. The test can identify rare neurological and metabolic diseases, as well as other conditions caused by genetic mutations. One of the most emblematic cases is that of little Henry, son of Lauren Dunn.

The baby was born prematurely and sent to intensive care. Here, doctors have identified a number of problems unrelated to premature birth and unexplained. Total sequencing provided a diagnosis in less than a week: Costello syndrome. This allowed doctors to provide the child with treatments tailored to his illness.

Source: independent.co.uk

A low fat, high egg whites diet could be the key to improving male fertility. Dr. Karma Pearce and Professor Kelton Tremellen have identified a link between diet and testosterone levels. According to the study, nutrition also affects the production of this hormone, improving or worsening fertility.

Researchers have proven that eating too much fat, including healthier ones, reduces testosterone levels. On the other hand, egg whites and milk proteins have the opposite effect.
This could therefore help the many men who cannot conceive. According to the World Health Organization, about 20-30% of couples' infertility cases are related only to male factors.

The researchers tested the effects of different nutrients on testosterone production. Immediately after taking large quantities of fat, testosterone levels drop for a minimum of 5 hours. The phenomenon also occurred with healthy fats such as olive oil. The discriminant is not the type of fat, in fact, but the quantity of the same. Another food that influences testosterone production is egg white. Consumed alone, it stimulates testosterone production. Together with fats, on the other hand, it reduces their negative effects and keeps hormone levels stable.

The researchers also tested its effects in combination with other foods, such as fruit juices and flours. Scholars focused on how the diet affects the hormone, but did not examine the quality of the sperm. Nonetheless, testosterone levels are linked to sperm production. As a result, researchers are convinced that certain types of nutrition could really affect sperm health and the chances of conceiving.

Source: news-medical.net

Glycine receptors are present throughout the central nervous system and play a fundamental role in various psychological processes. An international team has decided to study how it works during embryonic development, involving researchers from: Max Planck Florida Institute for Neuroscience (MPFI); University of Toyama; Yamagata University; Cairo University; RIKEN Center for Integrative Medical Sciences; Setsunan University.

Thanks to shared efforts, they have shown that the alpha-4 glycine receptor (Glra4) facilitates not only brain development, but that of the whole embryo. To fully understand the role of a gene, we need to eliminate it and study what happens. As a result, the researchers eliminated the Glra4 gene in a group of guinea pigs using CRISPR-Cas9. In this way, the researchers were able to observe the role of the receptor in the early development of fertilized eggs.

The receptor facilitates the development of the blastocyst, thus guaranteeing the quality of the embryo and controlling its size. The researchers observed the role of other types of glycine receptors within development. Genetic analyzes have highlighted the presence of variants within a good number of animal species, including humans. In our case, Glra4 is a pseudogene and we use another type of glycine receptor, Glra2. The latter performs the same task in humans as Glra4 in mice.

At the moment, the team is studying the effects of receptor destruction in the brain of mice. Preliminary data indicate that the absence of Glra4 could be linked to some psychiatric disorders. However, the study is still ongoing.

Source: maxplanckflorida.org

The risk of developing a tumor is linked to environmental and also genetic factors. A study published in the British Journal of Cancer Today focuses on the latter. According to the scientists, the genetic variants responsible for the disease may also be present in non-coding areas of the DNA.

The anomalies could in fact involve areas of DNA that control the expression of key genes for tumor development. The researchers analyzed 846 genetic variants within non-coding areas of DNA. All the abnormalities had already been linked to an increase in cancer risk, although it was unclear how. These variants are in fact much less studied than the classic ones, such as the BRCA1 and BRCA2. Still, they could be more common and contribute in part to tumor development.

The team analyzed the correlation between anomalies in non-coding DNA and the expression of genes. The researchers found that the variations affect the expression of genes, also influencing the chances of getting sick. The anomalies in the non-coding DNA are in fact in correspondence with regions that regulate the immune system, influencing the cellular processes that lead to the development of the tumor.

The discovery first surprised the researchers themselves, who now have a powerful predictive tool in their hands. The study shows in fact how many small variants put together can weigh as much more relevant variants. The goal is to use this new knowledge to improve current predictive tools, identifying the risk of cancer in time.

Source: cancerresearchuk.org