Quelle: Sciencedaily

Quelle: Sciencedaily

A class of drugs used to treat certain breast cancers could help to tackle lung cancers that have become resistant to targeted therapies, a new study suggests. The research found that lung tumors in mice caused by mutations in a gene called EGFR shrunk significantly when a certain protein was blocked. (Mehr in: Cancer News — ScienceDaily)

Pseudoachondroplasia (PSACH) is a severe inherited dwarfing condition In PSACH, a genetic mutation leads to abnormal retention of cartilage oligomeric matrix protein (COMP) within the endoplasmic reticulum (ER) of cartilage-producing cells (chondrocytes), which interferes with function and cell viability. Investigators describe how this protein accumulation results in ‚ER stress‘ and initiates a host of pathologic changes. These findings may open up new ways to treat PSACH and other ER-stress-related conditions. (Mehr in: Cancer News — ScienceDaily)

The study shows the role of the protein PIF1, capable of undoing different structures in these molecules. These molecules contain the instructions that allow cells to function correctly, so that when there is an alteration that is not repaired properly, mutations can occurred that can cause problems for the health of the body. (Mehr in: Cancer News — ScienceDaily)

Researchers have shown that the number of mutations in healthy and leukemic blood stem cells does not differ. Rather the location of the mutations in the DNA is relevant. Using the mutation patterns in the hematopoietic stem and progenitor cells (HSPCs) the team was able to trace the developmental lineage tree of the cells. (Mehr in: Cancer News — ScienceDaily)

In a new study, researchers describe a method for pinpointing tumor-specific factors in blood that can elicit a protective immune response in the body and may one day be harnessed to produce an effective vaccine against the disease. (Mehr in: Cancer News — ScienceDaily)

Mutations of the MERS virus contribute to its resistance against the defenses of the immune system (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

Mutationen machen MERS-Virus resistenter gegen die Abwehrkräfte des Immunsystems (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

Molecular and behavioral consequences of SETD5 mutation described in mice – Study published in Nature Neuroscience (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

Lowering mutation rates in harmful bacteria might be an as yet untried way to hinder the emergence of antimicrobial pathogens. One target for drug development might be a protein factor, DNA translocase Mfd, that enables bacteria to evolve rapidly by promoting mutations in many different bacterial species. This action speeds antibiotic resistance, including multi-drug resistance. Working on drugs to block Mfd and similar factors could be a revolutionary strategy to address the worldwide crisis of treatment-resistant infectious diseases. (Mehr in: Cancer News — ScienceDaily)

Scientists have discovered how tumor development is driven by mutations in the most important gene in preventing cancer, p53. (Mehr in: Cancer News — ScienceDaily)

Wissenschaftlerinnen und Wissenschaftler der Ruhr-Universität Bochum haben neue potenzielle Biomarker identifiziert, die helfen könnten, die Augenkrankheit Glaukom, auch bekannt als Grüner Star, bei Patienten früher zu erkennen. Außerdem fanden sie heraus, dass die Mutation eines bestimmten Gens bei Mäusen einen erhöhten Augeninnendruck auslöst. Der wiederum ist einer der Hauptrisikofaktoren für das Glaukom. (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

The new approach lets scientists examine the cumulative effect of multiple gene mutations, providing a much more complete picture of cancers‘ causes. (Mehr in: Cancer News — ScienceDaily)

Scientists have unraveled a mechanism of resistance to EZH2 inhibitors in ovarian cancers with mutations in the ARID1A gene. (Mehr in: Cancer News — ScienceDaily)

Ein Forschungsteam der ETH Zürich und des Kinderspitals Zürich haben ein neu entwickeltes Korrekturwerkzeug angewandt, um Gen-Mutationen gezielt zu korrigieren. Damit heilten die Wissenschaftler Mäuse, die an einer vererbbaren Stoffwechselkrankheit litten, die auch Menschen betrifft. (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

To improve outcomes for patients with non-small-cell lung carcinoma researchers are developing a blood test to detect lung cancer earlier in the disease. A report describes a new technology, electric field-induced release and measurement (EFIRM) that is both highly sensitive and specific in detecting two epidermal growth factor receptor (EGFR) mutations associated with lung cancer in the blood of NSCLC patients with early-stage disease. This platform is relatively inexpensive and capable of high-throughput testing. (Mehr in: Cancer News — ScienceDaily)

Researchers have identified an important step in the process that allows our bodies to fight viruses. Their work also explains how mutations that derail this process cause autoimmune disorders. This research provides the framework to develop new treatments for viral infections. (Mehr in: Cancer News — ScienceDaily)

Das WT1-Gen ist an der Ausbildung einer gesunden, korrekt funktionierenden Niere maßgeblich beteiligt. Mutationen in WT1 haben Störungen in der Nierenentwicklung zur Folge und verursachen Wilms-Tumor, einen Nierenkrebs bei Kindern. Forscher vom Leibniz-Institut für Alternsforschung – Fritz-Lipmann-Institut (FLI) in Jena haben nun eine weitere wichtige und unerwartete Funktion des WT1-Gens entdeckt. Es ist auch außerhalb der Nieren im zentralen Nervensystem aktiv und an der Kontrolle von Bewegung beteiligt. Fehlt das Gen im Rückenmark, dann treten motorische Störungen auf. Die Ergebnisse wurden jetzt in Life Science Alliance veröffentlicht. (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

The WT1 gene fulfills a central role in the development of a healthy, proper functioning kidney. Mutations in WT1 lead to impairments in kidney development and cause Wilms tumors, a pediatric kidney cancer. Researchers of the Leibniz Institute on Aging – Fritz Lipmann Institute (FLI) in Jena have now discovered a further important function of WT1. It is also active outside the kidneys in the central nervous system and is involved in controlling movement. If the gene is missing in the spinal cord, locomotor aberrancies occur. The results have now been published in Life Science Alliance. (Mehr in: Pressemitteilungen – idw – Informationsdienst Wissenschaft)

Normal skin contains a patchwork of mutated cells, yet very few go on to eventually form cancer and scientists have now uncovered the reason why. Researchers genetically engineered mice to show that mutant cells in skin tissue compete with each other, with only the fittest surviving. The results suggest that normal skin in humans is more resilient to cancer than previously thought. (Mehr in: Cancer News — ScienceDaily)

Scientists have identified another way the process that causes oil to form droplets in water may contribute to solid tumors, such as prostate and breast cancer. Researchers found evidence that mutations in the tumor suppressor gene SPOP contribute to cancer by disrupting a process called liquid-liquid phase separation. Liquid-liquid phase separation is seen often in nature and is the reason why oil and vinegar separate in salad dressing. (Mehr in: Cancer News — ScienceDaily)

Researchers have identified a neuronal BRAF somatic mutation that causes intrinsic epileptogenicity in pediatric brain tumors. (Mehr in: Cancer News — ScienceDaily)

A team of researchers has developed a new framework that can combine three existing methods of finding large mutations in cancer cells — called structural variants — into a single, more complete picture of cancer. (Mehr in: Cancer News — ScienceDaily)

The effects of KRAS mutations underlying many different types of cancer are more diverse than previously thought, according to a new study. Different mutations in the same amino acid of the KRAS protein have so varied effects on protein function that they may require different approaches when it comes to treatment and drug development. (Mehr in: Cancer News — ScienceDaily)