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Aurora magazine

The blog about the prenatal genetic of latest generation

Women carrying the HPV virus more likely to have underweight babies

The papillomavirus has repercussions on the weight of the children at birth, even two years after the infection. Women who have suffered, have 50% more chance of giving children underweight. This is revealed by a study led by the University of South Africa.

The researchers analyzed the pap-test of nearly 32,000 women. They thus identified a link between the presence of precancerous cells and underweight births. Positive women in HPV tests had 20% more chance of giving birth to small children. The risk rose to 50% if only children under 1500 grams were considered.

Underweight children have a higher mortality rate than the average. They also risk experiencing learning and behavioral problems later in life. According to the researchers, there is also the risk that viral papillomas penetrate the placenta. If so, it could compromise fetal development and aggravate the baby's condition.

This study confirms the importance of the vaccine against papilloma virus. The vaccine is recommended for both teenagers and their male peers. It is also important that women undergo regular tests to detect possible infections at birth.

Source: medicalxpress.com

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Causes and consequences of genetic abnormalities

Christopher W. Cowan's team unveiled the genetic mechanisms that cause substance dependence. The reasons are written in the DNA: some enzymes alter the expression and ignite the responsible genes of the relapses. The discovery will help develop new therapies to tackle abstinence crises.

The purpose of the study was to find out how the drugs gratify the brain, so to push them to look for them even after very long withdrawal periods. The researchers focused on the enzyme dehydrogenase deacetylase 5 (HDAC5), very present in the neurons of the nucleus accumbens. These neurons control the gratification circuit that the drugs turn on and off.

The researchers examined the action of the HDAC5 enzyme on some cavities. It has emerged that the enzyme helps to prevent relapses during abstinence crises. It in fact inhibits the expression of several genes of neurons of the nucleus accumbens, including the NPAS4 gene. The gene in question is responsible for the association between the taking of particular substances and particular environmental conditions. The enzyme, however, makes it more difficult for certain situations to trigger the desire of the substance.

The next goal is to understand which other genes are involved in addiction processes. This way you will be able to understand what happens to the brain when it first comes into contact with substance waxes. It will be a first step to develop treatments that reduce the risk of developing addictions.

Source: ansa.it

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Free genetic testing for periodic paralysis available

A new genetic test for the diagnosis of periodic paralysis has been announced in the United States. The test will be free and will identify the bearers of this rare genetic disease.

The cause of many cases of hypocalemic periodic paralysis is in a mutation of SCN4A, CACNA1S and KCNJ2 genes. The new test allows you to analyze all three genes, so you can detect any anomalies in one or more of them. If successful, patients will also be able to evaluate a new Keveyis treatment.

The diagnosis of periodic paralysis is difficult for more than one reason. First of all, it is a rare genetic disease that affects about 4000 to 5000 people in the United States. In addition, its symptoms are short-lasting and changeable. It often happens that paralysis has passed before the family doctor is available for a visit. In addition, the symptoms may vary dramatically from patient to patient.

Patients with periodic paralysis have been ignored for a long time. That is why the genetic test could revolutionize the treatment of the disease. It will facilitate diagnosis and speed it up, which can be very long. The presence of a reliable genetic test will also help doctors. With the right information, they can provide all the support they need.

Because periodic paralysis is a genetic disorder, the diagnostic test will also be available for relatives of the patients who are diagnosed. In this way it will be easier to detect even silent cases.

Source: raredr.com

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Beta-thalassemia removed from human embryo with gene editing

Chinese researchers have cured a human embryo with Mediterranean anemia. Thanks to a CRISPR daughter genetic editing technique, they corrected DNA and eliminated genetic abnormality. In the future, the technique could allow many illnesses to be corrected. For the time being, however, embryos have not been implanted and it will take time before the technique is applied.

Professor David Liu is one of the pioneers of CRISPR and the lead author of the study. Thanks to the tissues of a patient suffering from Mediterranean anemia, the researchers got sick embryos. They then used genetic screening to detect the mutation cause of the disease. Once found, they have corrected the genetic base and thus eliminated the disease. Healed embryos have not been implanted.

The Chinese turn involves a number of controversial ethical implications. It is wondering why the researchers did not test more on animal models before going to human embryos. It is also undeniable that European and US standards would never allow such action. Not in these ways and in these times, at least.

Many experts fear a drift of eugenics, which could be used to draw the perfect human being. Beyond that, modifying embryo DNA could cause unforeseen and inherent abnormalities. Although the technique used is safer than normal CRISPR, the risk is still present.

Source: repubblica.it

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