Aurora magazine

An IRGB-Cnr team and the University of Sassari identified the genetic defect associated with multiple sclerosis and lupus. The discovery opens the doors to the development of new drugs and personalized therapies.

The indicted gene is Tnfsf13B, responsible for the synthesis of Baff cytokine, a protein with immunotological functions. Its anomaly is linked to the risk of developing two autoimmune diseases, lupus and multiple sclerosis. The first affects skin, kidneys and other organs; The second concerns the myelin of the central nervous system.

Both diseases are multifactorial. This means that the autoimmune reaction is stimulated by both genetic factors and environmental factors. The more causes of the disease you discover, the easier it is to understand the biological mechanisms and to understand which are the best therapeutic targets. This creates the premises for personalized therapies tailored to individual needs. Searching for causes conflicts however with the complexity of the immune system.

The team analyzed the genome sequencing of thousands of individuals, both healthy and diseased. It also took into account their immunological profiles. All this lasted 6 years, during which they identified a correlation between the Tnfsf13B gene, the risk of lupus and multiple sclerosis. In this way they also identified previously unknown mechanisms.

For many years, researchers have considered T lymphocytes as the first cause of multiple sclerosis. The study also reveals that B lymphocytes also play a primary role in the development of the disease. Under normal conditions they produce antibodies, but in other cases they participate in the inflammatory response typical of autoimmune diseases.

Thanks to what has been discovered, now many facets of these two diseases are clearer. This is the laying of concrete foundations for the development of new treatments and personalized therapies.

Source: healthdesk.it

The first results of the TRACERx study show the effectiveness of liquid biopsy in lung cancer monitoring. The researchers used a principle related to non-invasive prenatal diagnosis: DNA analysis of floating cells in the blood. In the case of prenatal screening fetal cells in maternal blood are analyzed. In the liquid biopsy, however, tumor cells are analyzed in the patient's blood.

As a tumor develops, it is released into the cellular fragments that end up in the bloodstream. By analyzing them, it is possible to monitor the evolution of the tumor and its origin, starting with a blood sampling. The operation is called liquid biopsy and avoids the well-invasive traditional biopsies. Normally, in fact, it is necessary to intervene surgically to extract a fragment of tissue to be analyzed.

TRACERx involved 100 patients with lung cancer and were undergoing treatment. The researchers followed the evolution of the tumor, both by traditional methods and by liquid biopsy. They have thus compared the genetic changes detected in tumor cells and those taken from the blood.
Sequencing of DNA from liquid biopsy has shown that it is possible to diagnose the tumor in the early stages. It has also allowed identifying identifiable traits in circular cancer cells. All this proves that liquid biopsy can simplify cancer diagnosis and monitoring procedures.

Source: nature.com

Researchers from the University of Edinburgh discovered a group of key cells in testicular regeneration. Blocking these cells also blocks the tissue repair process, which serves to produce healthy spermatozoa. Discovery could help develop new tools against male infertility.

Testicles are organs very exposed to possible external damage, including radiation and chemotherapy. Although they have saved lives for so many children, these treatments often lead to infertility. In some cases, however, internal cellular mechanisms can repair tissue damage. It is still unclear how this will happen.
The Edinburgh team removed the cells known as Miwi2 from a group of mice. The cells without the expressed cells were unable to repair the testicles. This proves the role of this type of cell in cell regeneration. It also emerged that Miwi2 has functions similar to those of stem cells that allow them to respond to damage.

The study opens several options for pre-puberty children undergoing chemotherapy or radiotherapy. It is, in fact, the first step to understanding how to repair the testicles, so that they can recover their reproductive functions. Now you will need to locate Miwi2 equivalent in humans.

Source: eurekalert.org

A study at the University of Montreal reveals that certain antibiotics increase the risk of spontaneous abortion. Under accusation there are macrolides, quinolones, tetracyclines, sulphonates and metronidazole. Penicillins and cephalosporins are more secure, however. Discovery could affect the updating of guidelines on how to deal with pregnancy infections. It is also another indication of how important it is to moderate the intake of antibiotics.

Dr. Muanda and colleagues analyzed pregnancy data between January 1998 and December 2009. The study is still ongoing and is affecting all women covered by Quebec's public health insurance plan. The researchers focused on patients between the ages of 15 and 45, affected by spontaneous abortion before the 20th week. For each case, they also identified 10 subjects of the same age and with the same characteristics to be used as control.

Exposure to antibiotics was at least 1 prescription during gestation. Of the 182,369 pregnancies analyzed, 8,702 (4.7%) ended with spontaneous abortion around the 14th week. The control group included 87,020 pregnancies. The researchers found exposure to antibiotics in 12,446 (13%) cases, 1,428 of which ended with spontaneous abortion. Thus, 16.4% of spontaneous abortions among women exposed to antibiotics are spoken, against 12.6% of the control group.

Researchers have eliminated any possible alternative risk factors, so only the influence of antibiotics can be considered. The danger of antibiotic abuse for the health of the individual and the community is already known. This study only confirms this, also revealing how pregnant women need to pay more attention. During pregnancy it is advisable to undergo routine medical check-ups: prenatal screening tests such as fetal DNA test detect any chromosomal abnormalities in the fetus.

Source: medscape.com