Aurora magazine

A study on zebrafish embryos is helping neuroscientists to better understand diseases like autism and schizophrenia. University of Ohio researchers used minnows to analyze abnormalities in neurological development. In particular, they focused on the loss of the PCDH19 gene. It seems that the phenomenon is one of the causes of these diseases, even if the mechanics are still unclear.

Studies have revealed hundreds of genes linked to schizophrenia and autism. Unfortunately, scientists fail to understand how mutations affect brain development. For this reason, the team in question analyzed some zebrafish embryos. As these are transparent, it is easier to follow their development. Furthermore, zebrafish share a good chunk of DNA with humans.

The authors of the study introduced a mutation of PCDH19 in zebrafish, after which they analyzed the effects with a microscope. Thanks to the power of the instrumentation, scientists were able to observe neuronal activity. They discovered that the mutated embryos had much more grouped neurons than normal. It is still unclear what it means, but the unmodified embryos showed nothing of the sort.

The genetic mutation seems to have caused the connection between cells that normally do not interact. Perhaps diseases are caused by the interaction between areas that they should not communicate. Perhaps, the phenomenon becomes problematic when there are too many cells in a single network. For the moment we have only hypotheses that will be deepened.

Source: medicalxpress.com

The term neuronal ceroidolipofinosis (NCL) indicates a group of neurodegenerative genetic diseases. Sufferers show an accumulation of ceroid-lipofuscin, which causes most of the symptoms. There are different forms, distinguishable according to the age of onset.

• Congenital;
• child;
• Late infantile;
• youth;
• adulthood.

Each of them includes variants both at the genetic level and at the level of symptoms. All forms cause visual impairment, epilepsy, decline in cognitive and motor skills. However, prognosis and life expectancy change: children with the congenital form survive a few hours; those who suffer from the adult form can reach 50 years.

Neuronal ceroid lipofuscinosis are monogenic diseases: mutations affect a single gene, changing from patient to patient. To date, doctors have identified about 440 mutations placed on genes between CLN1 and CLN14. The function of some of these genes is not yet known, so it is difficult to say how mutations affect the body.

The disease occurs if both parents transmit a copy of the mutated gene. The adult form is an exception: in this case, it is enough to inherit a mutated copy of CLN4 to manifest the disease. If the mutated gene has already been identified in the family, prenatal diagnosis can be performed. Otherwise, the diagnosis is made by analyzing the clinical picture. For the moment there are no solution therapies: the treatments are based only on palliative care.

The poor pathogenetic knowledge makes it difficult to elaborate a treatment that acts on the heart of the problem. For this reason, several studies and gene therapy trials are underway.

Source: telethon.it

Fifty-two Italian research centers joined together to develop new genetic tests against cancer. The goal is to compare standard therapies and target therapy driven by genomic proliferation. If the latter were more effective, the doors of a new precision oncology would open. New genetic tests help identify the molecular characteristics of a tumor.

Doctors can profile the tumor's DNA and, thanks to artificial intelligence, develop a therapy. In this way, each patient can have a tailor-made treatment based on their specificity and needs. A further step towards precision medicine, which however requires further studies before it can become mass. Researchers from 52 research centers are evaluating the effectiveness of this type of approach.

The study is already in phase II and will involve 1200 patients suffering from lung, breast and gastrointestinal cancer. Furthermore, it will assess the efficacy of target therapy on rare tumors, against which standard treatments are ineffective. This will last for 18-24 months. To carry out the study, doctors will use genomic proliferation tests. In this way they will be able to identify the cardiac mutation of the tumor and behave accordingly.

The therapies will therefore focus not only on the location of the tumor, but above all on its genetic code. For this purpose it will be necessary to have oncologists and medical geneticists, but also bioinformatics, molecular biologists and surgeons.

Source: repubblica.it

Prenatal exposure to environmental pollution can cause changes in the brain and sexual organs. There is therefore a real risk that the quality of today's air affects the development of future generations. This is what a study presented at the annual congress of the European Endocrinology Society states. According to the researchers, polluted air contains some endocrine-acting chemicals.

The substances in question could interfere with the functioning of the hormones, causing problems for the whole body. Among these there would also be infertility and sexual development. However, the actual extent of these damages is still unclear. Do we have to be afraid even for the next generations? The authors of the study decided to shed some light: they let some pregnant animals live in a context of environmental pollution, after which they followed the young.

The young have shown abnormalities in the development of sexual organs, as well as behavioral ones. All these problems were transmitted to three successive generations, even though they were not exposed to environmental pollution. The first and second generation female rats showed abnormal behavior towards their young. In those of the second and third generation, on the other hand, the researchers found anomalies at the ovarian level. This means that their fertility had been compromised, although they were not directly exposed to chemical agents.

Scientists think it is the fault of an altered gene expression, which has altered the regulation of reproductive hormones. The discovery raises disturbing questions: what legacy are we leaving to future generations? Does the action of pollutants in the air really risk affecting the future of humanity?

Source: eurekalert.org