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Aurora magazine

The blog about the prenatal genetic of latest generation

The human brain has evolved thanks to three genes

If our brain has reached its current size, the merit is all of three genes found only in human DNA. The discovery comes from two independent studies, one from the Université Libre de Bruxelles, the other from the University of California in Santa Cruz.

The two research groups were investigating which genes are active only in the brains of human beings. During their studies, they identified three genes belonging to our species and absent in all others. In a second step, the researchers carried out a series of comparative genetic analyzes, so as to draw up a possible history of these genes.

The first gene appeared about 4 million years ago, in the DNA of one of our direct ancestors. In later times, the other two genes have also developed. The combined action of all three made the human brain triplicate its volume, reaching its current size.

The three genes are part of the Notch family of genes, essential in embryonic development. The researchers named them NOTCH2NL A, NOTCH2NL B and NOTCH2NL C. They are on chromosome 1, a region related to genetic diseases affecting the brain. Microcephaly and schizophrenia are linked precisely to the lack of small fragments of DNA in this region. The presence of duplicate fragments, on the other hand, causes macrocephaly and autism spectrum disorders.

The genes discovered by the two teams appear to be children of the NOTCH2 gene, linked to the differentiation of stem cells. The three genes could be partial copies of NOTCH2, later modified by cellular machinery. While NOTCH2 pushes stem cells to generate mainly neurons, however, NOTCH2NL push stem cells to produce other stem cells. This results in a greater production of neurons that would explain the increase in brain volume.

Source: lescienze.it

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Assisted fertilization: mature embryos develop better

One of the most critical moments in an assisted fertilization cycle is in-utero transfer. Most of the implanted embryos can not survive the process, causing the process to fail. This is why research into research into this phase is flourishing. A new study shows how to implant mature embryos with greater chances.

Keeping the embryos in an incubator for more than a couple of days is a challenge. We need high-quality equipment, which not all fertility centers can afford. Yet waiting five or six days before the implant would increase the chances of success of the plant. The period of time spent outside the womb acts as a selection, leaving only the best embryos for the implant. This is demonstrated by the data presented at the Conference on Assisted Reproduction and Prenatal Diagnosis organized by GynePro and CECOS Italia.

The standard procedure involves keeping the embryo in vitro for two or three days. The new procedure lengthens this time frame by a further two or three days. Although it seems a little, it is enough to increase the chances of success of the cycle. It is estimated that waiting to increase the odds from 30-35% to 56%. Because?

The elongated procedure exploits the selection process that takes place in the uterus. Embryos that do not resist the incubation period are those that do not take root in the uterus. In this way only the strongest embryos are implanted, saving time and unnecessary costs. Furthermore, the process avoids a large number of painful spontaneous abortions.

The extended incubation period is not available everywhere. In order to implement this, devices are in fact used to monitor the embryo without extracting it from the incubator. Unfortunately, it only has half of the Italian centers.

Source: corriere.it

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Pregnancy does not affect long-term weight

A cliché wants the pounds taken in pregnancy to be forever. Many expectant mothers fear that the happy event will cause permanent weight changes. Research by the University of Canberra, on the other hand, suggests that pregnancies have little to do with weight gain. Rather, the blame would be unemployment and depression.

The researchers examined data from nearly 15,000 women, collected between 2008 and 2013. From these, they analyzed the body mass index before pregnancy, during gestation and after delivery. They also compared the rates of disorders related to maternal weight, such as gestational diabetes and difficulties during delivery.

In a second moment, the researchers analyzed the weight of 8,000 girls over the course of 15 years. On this occasion, they compared the weight of those who had become mothers and those who did not. According to the data, pregnancy did not have any impact on weight in the long run. Any weight gain would therefore be linked to different factors, such as age, stress or depression.

During gestation it is normal to gain weight. After gestation, it is also normal to take some time to lose the weight gained. The important thing is to eat in a balanced way before, during and after gestation. In spite of what is said, in fact, during pregnancy it is necessary to take about 300 calories more. Not exactly double, as certain commonplaces would like.

Over the course of 15 years, most of the women who participated in the study gained weight. Nevertheless, scholars have found very few differences between those who had a child and who did not. Other factors, such as physical exercise and mental health, would be much more relevant. The data have indeed unveiled a link between depression, unemployment and weight gain.

Source: ansa.it

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8 out of 10 centenarians have the same genetic variant

A study by the Hospital Saverio De Bellis reveals the genetic variant of longevity. They have 8 centenarians out of 10 and protects against aging, diabetes, tumors and cardiovascular diseases. The discovery will help to better understand the aging processes. Furthermore, it will be a valuable tool for personalized medicine.

The researchers started with a series of international studies, which in turn involved over 15 thousand people. Thanks to the data of these volunteers, scholars have identified a genetic variant of very long-lived people. It is estimated that the variant is present in about 80% of the centenarians worldwide.

What does the beneficial anomaly consist of? The variation affects a small piece of DNA, the FOXO3 gene to be more precise. Those born with this genetic trait are more resistant to cellular stress. This allows him to age better and to a large extent to avoid diseases such as diabetes and cancer. Moreover, the owners of the variant are also more resistant to possible risks of cancer.

The mutation of FOXO3 seems to have positive effects even in unsuspected times. It is in fact linked to a lower risk of fetal malformations. Its carriers also better manage unfavorable weather conditions and possible power problems.

The study places a new piece in the framework of medicine and precision diagnostics. This discovery will help develop new genetic tests, which preach the possible effects of a drug before administration. The variant could also become a predictive marker that helps in the context of prognostic and therapeutic evaluations.

Source: repubblica.it

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