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Aurora magazine

The blog about the prenatal genetic of latest generation

Less oxygen in the womb, more risk of getting schizophrenia

Antenatal oxygen deficiency could favor the appearance of schizophrenia. The deficit is in fact linked to preeclampsia, which in turn could affect astrocytes. The effects of hypoxia on these brain cells could favor the appearance of the disease. This was stated in a study published in Scientific Reports, conducted by the Santa Casa de São Paulo Medical School (FCM-SCSP) in Brazil.

The researchers observed the effects of hypoxia on astrocyte mitochondria. Indeed, astrocytes are the most numerous cells within the brain, as well as the most important. Their job is to metabolize neurotransmitters such as glutamate, a key factor in schizophrenia. Their malfunction could therefore change the way neurons communicate, even leading to brain damage.

The author of the study, Dr. Luiz Felipe Souza and Silva, analyzed the effects of hypoxia in guinea pigs affected by hypertension. Babies born from guinea pigs exhibited schizophrenia-like symptoms in humans. Treatment with antipsychotic drugs has alleviated the symptoms, just like in humans. From what has been observed, cells subjected to hypoxia have altered mitochondrial calcium levels.

This hinders the production of energy for astrocytes, which therefore are unable to combat oxidative stress. Still, some types of hypoxia do not have this effect, on the contrary: cells produce a greater number of mitochondria, to balance their malfunction. The researchers are therefore looking for a way to trigger this process in case of hypoxia, so as to reduce the risk of permanent consequences.


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A strange infection has revealed a rare type of immunodeficiency

Cytomegalovirus (CMV) is a common virus, which affects around 90% of adults. In most cases, it is completely harmless and at most causes a little fever. Sometimes, however, it turns into a lethal infection despite the person being apparently healthy. A study led by Dr. Jean-Laurent Casanova, of Rockefeller University, has perhaps revealed why.

The team investigated the case of a 54-year-old Iranian man affected by the lethal version of the cytomegalovirus. The man's immune system was in excellent condition and, in theory, he would have had to fight the virus without problems. Nonetheless, the man did not respond to treatment and continued to deteriorate. A little over two years after the diagnosis, he therefore inexplicably died of respiratory failure.

Scientists analyzed the patient's immune system and DNA, looking for an explanation. Despite the excellent health conditions, humans presented a rare variation in the NOS2 gene. The mutation causes an error in the coding of the gene, which produces a non-functioning version of the enzyme. When the enzyme does not work, macrophages are not helpless in the face of certain types of viruses.

To prove their thesis, scientists observed NOS2-free guinea pigs. Their immune system was in excellent condition, in appearance. On contact with the cytomegalovirus, it proved to be non-functional. In fact, it was as if the guinea pigs were immunosuppressed. For this reason, new treatments designed specifically for such cases will be needed.


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The risk of endometrial cancer depends on 24 genetic variants

Professor Emma Crosbie, of the University of Manchester, analyzed 2,674 extracts and 149 scientific studies concerning endometrial cancer. The observations revealed 24 genetic variants possibly underlying the disease. The discovery will help refine the search for new treatments and develop tests for early detection.

The research in question is the most complete analysis of endometrial cancer studies carried out to date. The researchers systematically analyzed all the genetic variants mentioned, assessing the reliability of the evidence and the implications. This allowed them to isolate a limited number of genetic variants linked to the tumor, identifying those with a greater relevance.

The most significant variants are 19, to which are added 5 of medium importance. The anomalies affect the HNF1B, KLF, EIF2AK, CYP19A1, SOX4 and MYC genes. All variants are related to estrogen metabolism, cell survival and transcription control. Instead, there seems to be no evidence to support the rs2279744 variant of MDM2, considered in the past to be a risk factor.

Taken individually, a genetic variant increases the risk of cancer very little. But when they start to add up, the risk also multiplies. This applies to different types of cancer, including endometrial cancer.

Specifically, the sum of the variants mentioned above increases the risk of getting sick by 3.16 times. Depending on the variants present in the genome examined, it will be possible to evaluate how likely the person is to get sick. This will facilitate any early diagnosis and the creation of personalized treatments.


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We have the genetic map of cancer

Over 1300 scientists worked on the same project for 10 years: creating a genetic map of cancer. The results of this huge international work have been published in Nature, conquering the cover of the magazine. This is a fundamental discovery for the fight against cancer, which will allow the development of technologies for early diagnosis and new therapies.

The International Cancer Genome Consortium (Icgc) and the US consortium Tcga have joined together in an ambitious project: the Pan-Cancer Analysis of Whole Genomes (Pcawg). The researchers analyzed 2,600 genomes belonging to 38 tumor types, also analyzing areas neglected by previous studies.

Much of the genetic analysis of tumors focuses on 1% of the genome, that is, the one with the genes that code for proteins. This saves time and - above all - resources, but pushes to leave aside areas that could prove important. For this reason, the Pcawg has analyzed the genome as a whole, including the regions that regulate the ignition of genes.

The results confirmed the choice made: the regulation of the genes determines both the severity of the tumor and the responses to the various therapies. That's why, in the face of the same tumor, some people react better and others worse to the same drugs. In part it is because of the uniqueness of the patient. In part, however, contribute to the recurrent patterns present in all cancers of a certain type and a certain severity. By identifying these schemes, it is possible to predict which therapies will be most effective and to intervene immediately in the best way.


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