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Category: genetics – Page 77

Rare Gene Mutation Delays Alzheimer’s by Damping Immune Cell Inflammatory Signaling

Researchers at Weill Cornell Medicine report that a rare gene mutation that delays Alzheimer’s disease does so by damping inflammatory signaling in brain-resident immune cells in a preclinical study. The finding adds to growing evidence that brain inflammation is a major driver of neurodegenerative disorders such as Alzheimer’s—and that it may be a key therapeutic target for these disorders.

In their study “The R136S mutation in the APOE3 gene confers resilience against tau pathology via inhibition of the cGAS-STING-IFN pathway,” in Immunity, the investigators examined the effects of the mutation APOE3-R136S—known as the “Christchurch mutation”—which was recently found to delay hereditary early-onset Alzheimer’s. The scientists showed that the mutation inhibits the cGAS-STING pathway, an innate immune signaling cascade that is abnormally activated in Alzheimer’s and other neurodegenerative diseases. The researchers found that pharmacologically blocking the cGAS-STING pathway with a drug-like inhibitor replicated key protective effects of the mutation in a preclinical model.

“This is an exciting study because it suggests that inhibiting this cGAS-STING pathway could make the brain more resistant to the Alzheimer’s process, even in the face of significant tau accumulation,” said study senior author Li Gan, PhD, the Burton P. and Judith B. Resnick Distinguished Professor in Neurodegenerative Diseases and director of the Helen and Robert Appel Alzheimer’s Disease Research Institute at Weill Cornell Medicine.

“Delete-To-Recruit” — Scientists Discover Simpler Approach to Gene Therapy

Repositioning genes awakens fetal hemoglobin to treat disease. CRISPR editing may change future gene therapy.

Researchers have discovered a promising new approach to gene therapy by reactivating genes that are normally inactive. They achieved this by moving the genes closer to regulatory elements on the DNA known as enhancers. To do so, they used CRISPR-Cas9 technology to cut out the piece of DNA separating the gene from its enhancer. This method could open up new ways to treat genetic diseases. The team demonstrated its potential in treating sickle cell disease and beta-thalassemia, two inherited blood disorders.

In these cases, a malfunctioning gene might be bypassed by reactivating an alternative gene that is usually turned off. This technique, called “delete-to-recruit,” works by altering the distance between genetic elements without introducing new genes or foreign material. The study was conducted by researchers from the Hubrecht Institute (De Laat group), Erasmus MC, and Sanquin, and published in the journal Blood.

Human Cyborgs Are No Longer Science Fiction! (Insane Breakthroughs)

Are human cyborgs the future? You won’t believe how close we are to merging humans with machines! This video uncovers groundbreaking advancements in cyborg technology, from bionic limbs and brain-computer interfaces to biological robots like anthrobots and exoskeletons. Discover how these innovations are reshaping healthcare, military, and even space exploration.

Learn about real-world examples, like Neil Harbisson, the colorblind cyborg artist, and the latest developments in brain-on-a-chip technology, combining human cells with artificial intelligence. Explore how cyborg soldiers could revolutionize the battlefield and how genetic engineering might complement robotic enhancements.

The future of human augmentation is here. Could we be on the verge of transforming humanity itself? Dive in to find out how science fiction is quickly becoming reality.

How do human cyborgs work? What are the latest AI breakthroughs in cyborg technology? How are cyborgs being used today? Could humans evolve into hybrid beings? This video answers all your questions. Don’t miss it!

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#cyborg.
#ainews.

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Two proteins that could lead to less toxic cancer treatments identified

Cells depend on the precise reading of DNA sequences to function correctly. This process, known as gene expression, determines which genetic instructions are activated. When this fails, the wrong parts of the genome can be activated, leading to cancers and neurodevelopmental disorders.

Scientists at the University of Geneva (UNIGE) have identified two proteins that play a key role in regulating this essential mechanism, paving the way for promising new treatments that could be more effective and less toxic than those currently available. Their findings are published in Nature Communications.

Human DNA contains over 20,000 genes and would stretch nearly two meters if fully uncoiled. To fit this enormous amount of information into a tiny space within a cell—just 10 to 100 micrometers in diameter—it must be tightly compacted. This is the job of , a complex of proteins that packages and condenses DNA within the .

Detailed imaging of key receptors suggests new avenue for repairing brain function

For the first time, scientists using cryo-electron microscopy have discovered the structure and shape of key receptors connecting neurons in the brain’s cerebellum, which is located behind the brainstem and plays a critical role in functions such as coordinating movement, balance and cognition.

The research, published in Nature, provides new insight that could lead to the development of therapies to repair these structures when they are disrupted either by injury or affecting —sitting, standing, walking, running, and jumping—learning and memory.

The study, by scientists at Oregon Health & Science University, reveals the organization of a specific type of glutamate receptor—a that conveys signals between neurons and is considered the primary excitatory neurotransmitter in the brain—bound together with proteins clustered on synapses, or junctions, between neurons in the cerebellum.

Synthetic ‘killswitch’ uncovers hidden world of cellular condensates

Researchers at the Max Planck Institute for Molecular Genetics have developed a novel synthetic micropeptide termed the “killswitch” to selectively immobilize proteins within cellular condensates, unveiling crucial connections between condensate microenvironments and their biological functions.

Biomolecular condensates are specialized regions inside cells, existing without membranes, where critical biochemical reactions occur. Their importance in health and disease is well established, including roles in cancer progression and viral infection.

Methods to precisely probe and manipulate condensates in living cells remain limited. Existing strategies lack specificity, either dissolving condensates indiscriminately or requiring artificial protein overexpression, which obscures the natural behavior of native cellular proteins.

Atherosclerotic blood vessel cells grow similar to tumors, study reveals

Researchers from the University of Southern Denmark and Odense University Hospital have studied tissue from patients with atherosclerosis. They found that many of the cells in the diseased tissue carried the same genetic alteration and appeared to originate from a single ancestral cell that had divided repeatedly—a pattern otherwise associated with tumor biology.

In several patients, a large proportion of the cells were derived from one single mutated cell that had undergone many rounds of cell division.

“It’s striking how many cells in the tissue share the exact same . In several samples, more than 10% of the cells—hundreds of thousands cells—carried the same alteration. It’s difficult to interpret this as anything other than all these cells originating from a shared ancestral cell that, at some point during disease development, acquired the mutation,” says Lasse Bach Steffensen, Associate Professor at the Department of Molecular Medicine at the University of Southern Denmark.

Scientists find cellular brain changes tied to PTSD

The human brain is made up of billions of interconnected cells that are constantly talking to each other. A new study published in Nature zooms in to the single-cell level to see how this cellular communication may be going wrong in brains affected by post-traumatic stress disorder (PTSD).

Until recently, researchers did not have the technology to study within individual cells. But now that it’s available, a team led by Matthew Girgenti, Ph.D., assistant professor of psychiatry at Yale School of Medicine, has been analyzing to uncover genetic variants that might be associated with psychiatric diseases such as (MDD) and PTSD.

Their latest study is one of the first to examine a major psychiatric disorder, PTSD, at the single-cell level. For years, doctors have been prescribing antidepressants to treat the condition because there are currently no drugs specifically designed for PTSD. Girgenti hopes that identifying novel molecular signatures associated with the psychiatric disease can help researchers learn how to develop new drugs or repurpose existing ones to treat it more effectively.

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