Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases.

Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases. The new Alphamissense tool from the technology company Google Deepmind, available online, will allow scientists to refine diagnoses and design more tailored treatment strategies for patients suffering from pathologies associated with these variants.

Alzheimer’s disease (AD) has a new candidate for its treatment. Nasal anti-CD3 monoclonal antibody (MAb) reduced microglia activation in the brain of mice without its effect being dependent on the β-amyloid (Aβ) deposits characteristic of this neurodegenerative disorder. “We have done many basic studies in the laboratory on microglia. Microglia activation occurs in many neurologic diseases. One of them is multiple sclerosis (MS). And it also occurs in AD,” senior author Howard Weiner told BioWorld.

In multiple sclerosis (MS), macrophages and microglia play a dual role that could be used to treat this neurodegenerative disease. These cells promote inflammation that demyelinates neurons but also sweep away the debris of damaged myelin and produce neurotrophic factors that would allow its restoration. According to a group of scientists from the University of Hasselt in Belgium, damage or repair depends on a double switch that combines the action of two enzymes, one that desaturates and another that elongates fatty acids. By reducing the levels of these enzymes, phagocytic cells would replenish the myelin instead of engulfing it.

It was believed that they did not exist, but they are a reality. Scientists at the Francis Crick Institute in London have discovered stem cells in the thymus for the first time. The last organ to have its role described in humans still has properties that researchers could explore to prevent the decline of the immune system throughout life.

A large-scale genetic study found 26 risk loci for epilepsy, a chronic brain disease with multiple forms, not all of them heritable. The work, by more than 300 authors from the International League Against Epilepsy (ILAE), investigated seven different subtypes of this neurological condition. “There are over 100 genes that we know can harbor mutations that cause epilepsy,” the co-corresponding author Gianpiero Cavalleri told BioWorld. These genes have rare forms that cause that epilepsy. However, “this particular GWAS is focused more on common forms of epilepsy,” he said.

A Spanish study led by scientists from the Cajal Institute and the National Center of Oncological Research (CNIO) combined the power of artificial neural networks and biological neuronal circuits to identify abnormal brain activity produced by secondary metastases in the CNS and classify these tumors. The work, published online on Aug. 30, 2023, in Cancer Cell, showed how damage in the brain did not depend on the tumor size but on the effect it produced on neuronal circuits, interrupting cell communication.

KRAS-mutated tumors were once untreatable. In fact, KRAS was something of a poster child for so-called undruggability. Several laboratories are investigating strategies to address other mutations and uses beyond non-small cell lung cancer (NSCLC) and colorectal cancer. If you can't bind KRAS to block it, use a glue or combine multiple weapons. This is the idea behind two new approaches that target cancers caused by this proto-oncogene.

KRAS-mutated tumors were once untreatable. In fact, KRAS was something of a poster child for so-called undruggability. Several laboratories are investigating strategies to address other mutations and uses beyond non-small cell lung cancer (NSCLC) and colorectal cancer. If you can't bind KRAS to block it, use a glue or combine multiple weapons. This is the idea behind two new approaches that target cancers caused by this proto-oncogene.

The vast variety of tumors makes each cancer a world. For researchers, understanding the commonalities and divergences in their molecular underpinnings could help find successful treatments. Scientists from the Clinical Proteomic Tumor Analysis Consortium (CPTAC) have addressed these similarities and differences in 10 different types of cancer with two proteogenomic studies to unravel the genes that lead to cancer and the galaxy of interactions that regulate them.