Aurora magazine

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

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

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

The HIV virus alters the host cell genome to carve a safe haven and survive. In particular, it alters some cells of the immune system so that it can act in its favor. The discovery is the result of the collaboration of several research teams. Researchers at the San Raffaele Telethon Institute for Genital Therapy (SR-Tiget), the AIDS Immunopathogenesis Unit and the Infectious Diseases Unit of the IRCCS San Raffaele Hospital co-operated.

The HIV virus spreads into the body by attacking the immune system cells. Removes the original DNA and implants your own, so you can reproduce it. Scientists have unveiled some new details related to this phenomenon. The virus infects T regulator lymphocytes and inserts its own genome alongside the STAT5B and BACH2 genes, activating them. The genes regulate the proliferation of T lymphocytes.

T lymphocytes regulate the immune response of the body, turning it on and off as needed. According to researchers, the HIV virus could modify them to protect it. This would prevent other lymphocytes from attacking and blocking the action.

Source: healthdesk.it