Aurora magazine

Researchers took a step forward in the development of gene therapy against Sandhoff's disease. In fact, a study led by Dr. Laura Allende revealed that the disease could already appear in the womb.

Sandhoff's disease causes the accumulation of gangliosides, causing the death of brain and spinal cord cells. Dr. Allende wanted to understand if the process even begins during fetal development. In fact, the first symptoms often appear shortly after giving birth. For this reason, the team examined the induced pluripotent stem cells of some patients.

Researchers created healthy stem cells using Crispr / Cas9, to be used as a control group. To do this, they corrected the defective gene present in the cells of the patients themselves. In this way they obtained two groups of stem cells, which developed into mini brains. The first was healthy and the second affected by Sandhoff's disease.

The observations revealed accumulations of gangliosides in the diseased mini brain, not present in the other. Furthermore, they detected an excess of new cells that made the brain sicker much bigger. According to the researchers, the fault could be of some genes responsible for cell maturation. Diseased stem cells instead of differentiating themselves had continued to grow.

The guilt of non-differentiation could be accumulation of gangliosides. However, the thing remains to be determined. Meanwhile, the study showed how destroying gangliosides can affect fetal brain development. The researchers introduced the correct gene into 4 weeks old mini brains. After 2 weeks, the brains were almost normal in size and had no more ganglioside accumulations.

Source: asbmb.org

Researchers at the University of Sydney analyzed how people approached genetic testing. It was found that some patients at high risk of heart disease did not understand the impact of the results on their lives. This confirms how important it is to request an informed consultation with a specialist before and after a genetic test.

Genetic tests are used to assess how likely there are that a disease manifests itself. The most popular ones concern tumors, but they can also be applied to cardiac diseases such as hypertrophic cardiomyopathy. The disease causes a thickening of the heart walls, which can lead to a sudden heart attack. First-degree relatives of those suffering are 50% more likely to have the same genetic mutation.

Thanks to genetic tests, today it is possible to identify healthy carriers of hypertrophic cardiomyopathy. These people do not show symptoms of the disease, but they are still at risk. For this reason, the positive result of a genetic test can be overwhelming for most people. Some patients show signs of anxiety related to the appearance of any symptoms. Many stop exercising or question plans to start a family.

The problems in question mainly affect those who do not turn to a specialist to interpret the results. On the contrary, those looking for a consultation before and after the test have far fewer problems. A good geneticist can help them understand how to deal with the positive results of the test. He advises them and tells them how best to deal with the news.

Source: eurekalert.org

In women with polycystic ovaries, it has proved more effective to use frozen embryos than fresh embryos. A Chinese study then verified whether the same results were found in women with a regular cycle.

The researchers followed 2,157 women between the ages of 20 and 35 who were undergoing in vitro fertilization. All women had a regular cycle, so between 21 and 35 days. None of them had problems related to high blood pressure, diabetes, polycystic ovaries. In contrast, in the group there were women with fallopian tube problems or those suffering from unexplained infertility. In some cases, the cause of infertility was related to the male partner.

Each woman followed a cycle of gonadotropin-releasing hormone to stimulate ovulation. Following oocyte fertilization, doctors implanted fresh embryos in half of the participants. These also received extra progesterone treatment. The other half of the participants, however, received frozen embryos.

The rate of parts in the two groups was similar: 50.2% for the group of fresh embryos and 48.7% for that of the frozen embryos. However, in the first group there was a much higher rate of abortion in the second quarter (4.7%) than in the second group (1.5%). Furthermore, women who used frozen embryos had fewer problems with ovarian hyperstimulation syndrome.

Source: medicalnewsbulletin.com

Playing sports during pregnancy lowers insulin levels and blood pressure. It therefore reduces the risk of type 2 diabetes and hypertension, with a beneficial effect on mother and child. This is revealed by a team of Norwegian scientists, who analyzed the answers to an exercise program for pregnant women.

The researchers carried out the exercise program between September 2010 and March 2015. In this time frame, 70 women were divided into two groups. The first, composed of 36 women, trained three times a week with 35 minutes of walking / running and 25 minutes of exercises. The second group, composed of 34 women, received standard prenatal care.

The women in the movement group had fewer problems in postpartum weight loss. They also showed lower levels of insulin and lower blood pressure, probably due to increased physical activity. The lower presence of insulin in the blood also lowered the risk of type 2 diabetes.

In the group that was dedicated to standard prenatal care, 3 women developed type 2 diabetes. In the second group, however, none had this problem. In addition, 46.4% of women continued to exercise even after giving birth.

Source: diabetes.co.uk