Aurora magazine

Small differences in gene expression during development could increase or reduce the risk of getting sick. This was revealed by a study by the Universities of Chicago and Johns Hopkins.

The researchers analyzed stem cell RNA as they turned into heart cells. During the process, they identified hundreds of gene expressions in different sections of DNA. Expressions changed from individual to individual, determining part of the functions of the genes involved. According to the researchers, this could influence the likelihood of a certain disease manifesting itself.

The changes in question occur in the midst of development, often invisible in adult cells. Hence the need to observe stem cells during development. For this purpose, the researchers took RNA samples from the cells once a day for 16 days. In this way they were able to measure gene expression from day to day, so as to identify even the most subtle changes.

The RNA could explain why the risk of getting sick changes from individual to individual, even when there are the same genetic variants. Diseases such as diabetes, for example, are caused by the combination of genes and lifestyle. Lifestyle that involves minute changes in the way genes express themselves. This may one day help to more accurately identify those most at risk. For the moment, however, the whole process is too expensive.

Source: uchospitals.edu

Smog could adversely affect female fertility. The discovery comes from the Universities of Modena and Reggio Emilia. The researchers measured the levels of antimullerian hormone in 1318 Modenese women. From what has emerged, the more polluted the air, the lower the levels and the lower the chances of conceiving.

The antimullerian hormone is released from the cells of the ovary and is linked to the number of available oocytes. The researchers compared the levels of the hormone with those of fine particles in the air. At the same age, women exposed to greater quantities of pollutants were less fertile than those less exposed. It is therefore likely that air quality will affect your chances of getting pregnant. Dr. Antonio La Marca presented the results of the study at the European Society of Human Reproduction and Embryology Meeting, held this year in Vienna. According to the researcher, living in a highly polluted area is associated with a marked reduction in reproductive capacity.

Smog could accelerate the loss of eggs useful for reproduction even two or three times. The study offers interesting ideas, but needs confirmation. Furthermore, the researchers did not measure women's individual exposure: they were based on general data. However, the discovery could explain some cases of unexplained female infertility and early menopause. This although it does not offer immediate solutions.

Source: newscientist.com

Over the past 23 years, researchers have always linked depression to environmental and genetic factors. This has been since the first genetic factor linked to the disease was discovered. Nevertheless, a study published in the American Journal of Psychiatric could deny this correlation. According to the author, the correlation between the 18 genes identified to date and depression is based on statistically insignificant data.

It all starts with an analysis done in Colorado on a vast biodata bank. The analyzed sample includes about 620,000 individuals. The authors of the study combined a series of data:

• presence of genetic variants related to the disease;
• type of depression;
• environmental conditioning;
• child abuse;
• difficult socio-economic situations.

Apparently, no relevant link would have emerged between genes and major depression. According to the authors, therefore, the many cases reported in other studies would be false positives, probably caused by too small samples.

The genes would have nothing to do with depression. Almost. In reality, the authors of the study call for an in-depth study of possible genetic causes of the disease. However, they advise focusing primarily on the possible environmental causes, such as social conditions and lifestyle.

We are in fact far from having a clear and unambiguous idea of ​​what the actual causes of the major depression are. For Massimo Cozza, Director of the Department of Mental Health of the ASL Roma 2, the treatment of depression must take into account the complexity of the disease. Not only drugs, but also psychological, social and psychotherapy support. All taking into account the peculiarities of the individual.

Source: repubblica.it

As we have said in more than one article, it is difficult to diagnose rare genetic diseases. Also for this reason, in recent years studies are underway to develop new prenatal screening and genetic tests. Scientists from the University of Bonn have developed artificial intelligence to facilitate the diagnosis of rare diseases.

The researchers used data from 679 patients with 105 diseases caused by variations in a single gene. The diseases used cause intellectual and physical disabilities; some of these cause obvious malformations. The developed software has collected and processed all patient data, including: characteristic features of the face; clinical symptoms; genetic data. At this point, they trained artificial intelligence using around 30,000 images of people with rare genetic diseases.

The software used facial analysis as a first filter, in order to concentrate subsequent analyzes on a limited range of pathologies. The results of the study are proving positive. The software allowed to solve some cases that had remained unanswered, improving the rate of diagnosis. Used systematically, the software could shorten the time and reduce the risk of misdiagnosis. In this way it would be easier to intervene quickly and offer a better quality of life to patients.

Source: uni-bonn.de