Aurora magazine

Researchers at the University of Southern California have discovered a possible biomarker for Zika malformations. If confirmed, the news could improve prenatal screening and improve the fight against the virus.

The greatest risks from the virus are related to infections that occur in the first and second trimester. A prenatal test could facilitate early diagnosis, which today only occurs when the pregnancy is already advanced. The team expects to be able to develop it in relatively little time, also offering further information on the mechanisms of infection.

The researchers compared blood samples from 30 infected and 30 healthy women. Thanks to the samples, the scientists observed the reactions of the immune system to infection. They focused on the cytokines produced by the body and identified 69 of them. Of these, 16 could be linked to malformations caused by the virus. However, other analyzes will be necessary, also to identify other possible chemical agents.

According to the authors of the study, other chemical messengers may also be involved, or substances secreted in response to particular factors. However, this is a beginning that sets the stage for the development of prenatal tests that facilitate early detection of Zika. The goal is to obtain a test similar to that of fetal DNA, which exploits the material present in the mother's blood without touching the fetus.

Source: medicaldevice-network.com

A team from Baylor College of Medicine has identified a new biological process underlying the Batten disease. The aim of the research was to understand the functioning of the lysosomes involved and to identify a possible lever for the therapies.

The disease is associated with a defect in the CLN8 protein located in the endoplasmic reticulum. Nevertheless, the Batten is one of the so-called lysosomal storage diseases. As a result, the researchers already imagined that the mutation was to be found in a protein, however, located in lysosomes. The study clarified some of the mechanism.

The researchers analyzed 4 proteins that help lysosomal enzymes exit the endoplasmic reticulum. Among these there was also CLN8, the only one that interacted with two thirds of the enzymes tested. As a result, scientists focused on it and switched to animal modeling.

Guinea pigs with a defective version of CLN8 had fewer enzymes in lysosomes. In fact, protein is necessary to allow newly formed enzymes to go out and do their job. CLN8 acts in practice as a cargo transporter, which selects and transfers the newly synthesized enzymes into the Golgi complex. Here they are modified and then sent to the lysosomes. In those who suffer from the Batten disease the process does not work.

When the protein does not work properly, the lysosomal enzyme can not cross the endoplasmic reticulum. As a result there is a deficit within the lysosomes, which leads to the development of the disease. It remains to be seen whether CLN8 works together with other proteins, how it responds to cell degradation and how it recognizes the enzymes to be transported. Furthermore, it will be essential to understand how to correct the process with drug therapy.

Source: raredr.com

Precision medicine takes a new step forward thanks to the UK Biobank, one of the most important DNA banks in Europe. Inside there are genome data of 500 thousand people, made available for biomedical research. Thanks to them, the geneticist Giuseppe Novelli's team has shed new light on some of the most common genetic-based diseases. In the future, the findings made could help identify those at risk of cancer, diabetes and cardiovascular disease.

The team at the University of Rome Tor Vergata made use of DNA samples and more. Between 2006 and 2010, researchers also collected urine and plasma samples of volunteers aged between 40 and 69 years. Combined with data on the genome, they have facilitated the division of the population into different layers.

In this way they were able to identify the population groups most at risk of diabetes, heart attack and other diseases. All different diseases, for which effective screening is lacking worldwide.

Until today, studies linking DNA and phenotype of the person were conducted only on small groups. Furthermore, they mainly concerned individuals suffering from genetic diseases or particular conditions. The two studies in question are the first that involve such a large number of volunteers and that affects everyone.

Researchers have succeeded in identifying approximately 96 million genetic markers linked to widespread diseases. They have multiplied the number of information related to them a hundredfold.

One of the two studies focused on the genome of 8,428 people and on the magnetic resonance of 10,000 people. Combining the data, the researchers looked for genetic variants that can be linked to the genesis of some neurodegenerative diseases. For the first time they combined brain maps, DNA and magnetic resonance imaging. All in order to find new prevention and screening systems.

The study is still ongoing. In the next three years, researchers will add data from the magnetic resonance imaging of another 70,000 people. They intend to study the development and aging of the brain, in addition to the consequences of diseases.

Source: ansa.it

An international team studied a molecule called TIM-3, which could play a key role in regulating immune responses. The study was conducted by scientists at McGill University Health Center (RI-MUHC), Montreal Children's Hospital and McGill University. In collaboration with colleagues from the Université Paris-Descartes and the Image Institute, they isolated this protein. Thanks to further studies, it could become a new target for treatments against cancers and other diseases.

When the TIM-3 protein is suppressed or inactive, the T lymphocytes become uncontrollable. This results in a rare form of lymphoma called a panniculite-like subcutaneous T-cell lymphoma. The team identified the two mutations that act on the TIM-3 protein, preventing it from attacking cancer cells.

The study is based on a previous work, in which scientists had detected the same form of lymphoma in two siblings. After sequencing the genomes, they found that both patients were carriers of the same mutation. The variant involved the HAVCR2 gene, which encodes the TIM-3 protein and is transmissible from the parents. It was thought that it was common especially in Asia, but further studies have denied it.

The study also found that this form of lymphoma is far more common than previously believed. Both responsible mutations are found in Asian, Australian and Polynesian individuals, as well as Europeans. Scientists have found similar cases in patients with Tyr82Cys and Ile97Met mutations, both on the same gene and in both European and Polynesian patients.

Source: medicalxpress.com