Aurora magazine

A study led by Professor Stuart Lipton is testing the effectiveness of a new drug against autism, NitroSynapsin. For the time being, the team is running tests on animal models, but the first results seem to be promising. The drug corrected a good part of the brain and behavioral abnormalities of the mice, with positive consequences on the typical symptoms of the autistic spectrum.

The new study is rooted in a 1993 study. Lipton and his Harvard team identified a gene involved in brain development, MEF2C. They later discovered that guinea pigs with an abnormal version of MEF2C showed symptoms similar to those of autism. This led to the identification of a similar genetic abnormality in human children affected by some forms of autism.

The MEF2C gene encodes a protein that acts as a transcription factor and is more or less directly involved in many forms of autism. Restoring gene functions should therefore have a positive effect on the disease. The drug NitroSynapsin serves to balance inhibitory signaling factors and an exciting inside the brain, abnormal in those suffering from some forms of autism.

The researchers gave the drug to guinea pigs for three months. Mice responded well to treatment. In many of them he reduced abnormal behaviors and improved cognitive and behavioral functions. In some cases, the guinea pigs are almost back to normal levels. The next step is to check on what forms of autism NitroSynapsin is effective what the effects on the human being are.

Source: scripps.edu

For the first time in the United States, a woman born without a uterus could give birth to her son. The merit of the uterus transplant was led by Dr. Liza Johannesson. The technique has already paid off in other parts of the world, but this was the first US case.

The birth took place at Baylor University Medical Center, where the clinical trial for uterus transplantation is ongoing. The women who participate in it all suffer from absolute infertility due to the uterine factor. Many of them have a functioning or non-functioning uterus due to birth defects. Others suffer from the consequences of tumors or other diseases.

The uterus used for transplantation is that of nurse Taylor Siler, 36 years old. The woman has two children and has decided not to have any more. For this reason, he decided to donate his womb to give another woman the chance to become a mother. For this purpose she underwent a series of physical and psychological screening, culminating in an intervention of over five hours.

The transplant of the uterus of Siler was only one of the 8 occurred in the first phase of the trial. Of these 5 were successful, while the other 3 ended with a rejection. All participants are between 20 and 35 years old and all donors are between 30 and 60 years old.

After transplantation, women waited for the first menstruation, after which they resorted to in vitro fertilization. In the case of the US study, in fact, women have all ovaries functioning but not connected with the uterus. They can therefore ovulate, but conception is possible only through assisted fertilization.
The child protagonist of the story is the first born thanks to the US program. The delivery was by caesarean section and the baby is fine.

Source: time.com

Researchers at the University of Wisconsin-Madison took a new step forward in the fight against Friedreich's ataxia. They used a molecule designed specifically to overcome an obstacle caused by a genetic defect. In vitro and on animal models, the procedure has given excellent results. This ignites the hope of finding an effective treatment against this rare and fatal genetic disease.

Friedreich's ataxia, like other 40 genetic diseases, is caused by repeated strings of DNA. This prevents the proper formation of proteins, due to cellular blocks that jam the mechanism. To solve the problem, the researchers have developed a kind of molecular prosthesis to restart the cellular mechanism. A component of the prosthesis identifies the repetition, the second helps the cell to bypass it.

For the time being, the researchers have tested the procedure in two types of tests.

In the first test, the scientists used the cell lines of 20 patients with Friedreich's ataxia. Applied in vitro, the molecular prosthesis has helped cells restore the correct gene expression. In this way they also resumed producing the missing protein.

In the second test, they used the prosthesis on guinea pigs. Also in this case, the procedure re-established the mechanism of protein production.

Despite the excellent results, we will have to wait for many more years before we get to human tests. The same team had indeed registered a first success in 2004, but ended with nothing done. The molecule used as a prosthesis was in fact attracted by other areas of DNA similar to the one in question. With the new study, researchers seem to have solved the problem of 2004, but further tests will still be needed.

Source: wisc.edu

A study by the Universities of New Mexico and Göttingen suggests that stress in pregnancy affects the weight of the child at the time of delivery. The discovery follows a series of other research, focusing on the role of stress in fetal development.

According to the researchers, the pregnancy phase is also decisive in which the highest levels of stress are recorded. In the last stages of pregnancy, stress pushes the woman to invest less energy in the fetus. This causes a slowdown in development, which results in a lower weight of the child both at birth and in the first months. Once the baby is weaned, however, he starts growing normally.

Prenatal stress is far more harmful in the early stages of gestation than the fetus is still developing. In these months, it can push the fetus to develop faster to survive a reduced life expectancy. This has negative consequences even after giving birth. The fetus developed in serious stress situations, in fact, will grow faster than the peers even once born. The finding could explain why cases of premature menarche are more common among poor families.

Stress during the early stages of gestation also increases the risk of obesity. Once the individual is independent of the mother, the organism still maintains a rate of accelerated development. This translates into metabolic problems and sometimes into obesity. In some cases the consequences also affect the psychological sphere of the child.

Source: unm.edu