Aurora magazine

It is part of a new project for collecting genetic data linked to autism. The study involves 100 families with at least one autistic son. Family members are subjected to genetic testing to detect genetic mutations linked to autism. Research is conducted by Paola Visconti, head of the Autistic Spectrum Disorders Symposium at the Institute of Neurological Sciences in Bologna.

New technologies have simplified the diagnosis of autism. Genetic screening can help identify abnormalities that are common to 25% of cases of autism. It is also a fundamental tool for studying possible causes that can be detected in the remaining 75%. This second group of subjects are at the center of the study in question, which began in 2016 and is still in progress.

Researchers are assessing the blood samples of members of the 100 families involved. By analyzing DNA, they analyze the molecular karyotype, nuclear DNA and mitochondrial DNA. In this way they aim to identify genes related to the development of mimicry, motility and verbal production.
Despite efforts, researchers struggle to identify a specific biomarker for autism. Many therefore point to identifying the small anomalies that might be the cause of the disease. Parents' examination is therefore crucial, either to find inherent genetic factors, and to identify any environmental factors that may occur during pregnancy.

It's still early to talk about a prenatal screening test for autism. The study, however, seeks to better understand the root causes of the disease. Each discovery facilitates both the diagnosis and the search for new treatments.

Source: corriere.it

The UT Southwestern Medical Center researchers have identified the mechanism behind white hair and baldness. Thanks to the discovery, some of the effects of aging will be better understood. Also, it could lead to a treatment against these two cosmetic problems.

The discovery was born under a medical design project. The authors were studying the formation of certain types of cancer. Going forward, they identified the progenitor cells from which their hair was born and the reason they became white. The hair shaft cells contain the gene responsible for the protein KROX20, associated with the development of the nerves. This first discovery is followed by the SCF (stem cell factor) protein.

Scientists have eliminated KROX20 protein from progenitor cells of some cavities. The mice in question have become bald. They then eliminated the SCF protein from another group of cavities. In this case the hair became white. It follows that the first protein is essential for hair growth and the second for pigmentation.
Cells with their KROX20 and SCF proteins move from bulb to epidermis. Here they meet with melanocytes, cells containing melanin, pigment of skin and hair.

Following this encounter, the hair color. If proteins are lacking, the hair grows without pigmentation or grows.
With aging, the two proteins work worse. According to the authors, this may be the cause of hair loss and hair loss.

Source: medicalxpress.com

An IRGB-Cnr team and the University of Sassari identified the genetic defect associated with multiple sclerosis and lupus. The discovery opens the doors to the development of new drugs and personalized therapies.

The indicted gene is Tnfsf13B, responsible for the synthesis of Baff cytokine, a protein with immunotological functions. Its anomaly is linked to the risk of developing two autoimmune diseases, lupus and multiple sclerosis. The first affects skin, kidneys and other organs; The second concerns the myelin of the central nervous system.

Both diseases are multifactorial. This means that the autoimmune reaction is stimulated by both genetic factors and environmental factors. The more causes of the disease you discover, the easier it is to understand the biological mechanisms and to understand which are the best therapeutic targets. This creates the premises for personalized therapies tailored to individual needs. Searching for causes conflicts however with the complexity of the immune system.

The team analyzed the genome sequencing of thousands of individuals, both healthy and diseased. It also took into account their immunological profiles. All this lasted 6 years, during which they identified a correlation between the Tnfsf13B gene, the risk of lupus and multiple sclerosis. In this way they also identified previously unknown mechanisms.

For many years, researchers have considered T lymphocytes as the first cause of multiple sclerosis. The study also reveals that B lymphocytes also play a primary role in the development of the disease. Under normal conditions they produce antibodies, but in other cases they participate in the inflammatory response typical of autoimmune diseases.

Thanks to what has been discovered, now many facets of these two diseases are clearer. This is the laying of concrete foundations for the development of new treatments and personalized therapies.

Source: healthdesk.it

Texas University researchers used CRISPR to correct the mutation due to Duchenne's dystrophy. For the time being they have performed on human cardiomyocytes and on animal models. Both cultured cell cultures and cavities recovered part of their functions. This demonstrates the potential of CRISPR for the development of new treatments, as well as for the prevention of diseases.

A 2014 study by the same authors used CRISPR-Cas9 to correct mice in a key gene for the disease. In the present study they applied a similar strategy, but using CRISPR-Cpf1. The latter is simpler and allows you to correct mutations that are not reachable before. In this way you will be able to act on a broad spectrum of issues with better results.

The team converted the fibroblasts of patients with Duchenne into pluripotent stem cells induced. It then deleted the mutations linked to the production of dystrophin, a key protein in the development of the disease. Subsequently, they developed RNA guidance that could restore the correct protein functions. They also induced a cellular respiration rate closer to that of a healthy heart.

For the in vivo part of the tests, the researchers injected the Cpf1 endonucleases together with the RNA guide and a single strand of a DNA sequence. In this way they facilitated homologous recombination, thus correcting the mutation in mice zygotes. They then implanted the zygotes in some "surrogate mothers" and on 24 puppies 5 they had the correct version of the gene.

Source: the-scientist.com