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C9orf72 hexanucleotide repeat RNA drives transcriptional dysregulation through genome-wide DNA: RNA hybrid G-quadruplexes

Transcriptional dysregulation hexanucleotide repeats in ALS

Repeat hexanucleotide RNAs in C9orf72 are implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia disease pathogenesis but the mechanisms of action remain incompletely understood.

The researchers demonstrate that expanded C9orf72 G4C2 repeat RNAs bind gene promoters across the genome and form DNA: RNA hybrid G-quadruplexes (HQs) structures with DNA.

These structures obstruct RNA polymerase II and transcription factors, repress gene expression, and heighten neuronal vulnerability, providing mechanistic insights into neurodegeneration in ALS and FTD. sciencenewshighlights ScienceMission https://sciencemission.com/hexanucleotide-repeat

Liu et al. demonstrate that expanded C9orf72 G4C2 repeat RNAs bind gene promoters across the genome and form HQ structures with DNA. These structures obstruct key transcription machinery, repress gene expression, and heighten neuronal vulnerability, providing mechanistic insights into neurodegeneration in ALS and FTD.

A single-cell transcriptional reference for the functional and developmental diversity of neonatal innate lymphoid cells

Mononuclear cells (MNCs) were isolated from fresh umbilical cord blood (CB) via a Ficoll gradient (n = 3). Unwanted cells were depleted using biotinylated antibodies (anti-CD3, anti-CD14, anti-CD19, and CD66b) and magnetic beads. The cells were stained to faithfully sort cILC1s (Lin−CD94−CD127+CD117−CRTH2−), cILC2s (Lin−CD94−CD127+CD117−/+ CRTH2+), cILC3s (Lin−CD94−CD127+CD117+CRTH2−), and NK cells (Lin−CD94+), as previously described.5,7,33 The four individual populations were individually multiplexed, pooled, and stained with Ab-Seq antibodies.

(A) scRNA-seq was performed via the BD Rhapsody protocol.

(B and C) UMAP visualization of sorted populations (B) and individual clusters of CB cILCs and NK cells with color coding of the individual cluster 0–10. The following clusters were identified: 0, CD56dim NK cells (GZMBhigh); 1, CD56dim NK cells (GZMBlow); 2, cILC2s (GATA3); 3, cILC progenitor (KIT); 4, CD56bright NK cells (GZMK); 5, intermediate zone (NK/cILCs); 6, cILC1s (CD5); 7, activated CD56dim NK cells (PCNA); 8, cycling CD56dim NK cells (MKI67); 9, cILC3s (RORC); and 10, CD56dim NK cells (FOXP2) ©.

Cell-type specific TDP-43 pathology in the motor cortex

The hallmarks of cancer comprise six biological capabilities acquired during the multistep development of human tumors. The hallmarks constitute an organizing principle for rationalizing the complexities of neoplastic disease. They include sustaining proliferative signaling, evading growth suppressors, resisting cell death, enabling replicative immortality, inducing angiogenesis, and activating invasion and metastasis. Underlying these hallmarks are genome instability, which generates the genetic diversity that expedites their acquisition, and inflammation, which fosters multiple hallmark functions.

‘Bugs delivering drugs’: A new approach to colorectal cancer treatment using common food-borne bacteria

Baylor University researchers have developed a novel approach to fight colorectal cancer, using modified bacteria as a courier to deliver potent cancer-killing proteins into tumor cells. Michael S. VanNieuwenhze, Ph.D., FRSC, University Distinguished Professor and chair of the Department of Biology, along with Baylor doctoral students and a colleague at Texas Tech University Health Sciences Center, have published their research in Cell Chemical Biology.

Colorectal cancers accounted for the second-most deaths caused by cancer in 2025, according to the National Cancer Institute, highlighting the importance of new strategies for therapy and treatment.

Building on growth in the use of bacteria as a tool in fighting cancer, VanNieuwenhze and his team attached saporin, a known cancer-killing toxin, to the surface Listeria monocytogenes, which delivers the toxin to tumor cells. Listeria, commonly recognized as a food-borne bacteria, can be modified for express therapeutic purposes while maintaining its ability to penetrate human cells—making it, VanNieuwenhze said, a particularly promising agent in the fight against colorectal cancer.

CSF Proteomic Profiles Associated With White Matter Integrity in Cognitively Normal Older Adults With and Without Amyloid Pathology

Background and ObjectivesIncreasing evidence indicates a potential role of white matter (WM) damage in the onset and progression of Alzheimer disease (AD). However, the biological processes underlying in vivo WM imaging biomarkers remain unclear. We…

New Pancreatic Cancer Treatment Wipes Out Tumors and Blocks Drug Resistance

A triple drug approach that blocks the KRAS pathway at three points eliminated pancreatic tumors and prevented resistance in mouse models.

Existing treatments for pancreatic cancer often stop working within a few months because tumors quickly develop resistance to the drugs. Researchers at Spain’s National Cancer Research Centre (CNIO) report that they have prevented this resistance in animal studies by using a three-drug combination therapy.

The researchers say their findings “pave the way for the design of combined therapies that may improve survival,” although they caution that this progress will not immediately translate into new treatments for patients. Mariano Barbacid, head of the Experimental Oncology Group at CNIO, emphasizes that “we are not yet in a position to carry out clinical trials with this triple therapy.”

A 3D-printed swallowable robot could perform gastrointestinal procedures

Recent technological advances have opened new possibilities for the development of advanced medical devices, including tiny robots that can safely move inside the human body. Some of these systems could help to simplify complex medical procedures, including delicate surgeries and the targeted delivery of drugs to specific sites.

THE MINIMAX lab at University of Texas (UT) Austin specializes in the development of tiny robots for medical, environmental, and other applications. In a recent preprint paper on arXiv, researchers from this lab introduced a new 3Dprintable and magnetically steerable capsule robot that could potentially help to diagnose and treat some gastrointestinal (GI) conditions.

“My motivation for GI health monitoring is deeply personal,” Fangzhou Xia, director of the MINIMAX lab at UT Austin and senior author of the paper, told Medical Xpress. “In 2022, when I was a postdoc at MIT, I experienced a severe GI medical episode involving repeated gallstone-induced bile duct blockage that ultimately required gallbladder removal surgery.

Researcher behind major Alzheimer’s breakthrough: this is my most important advice if you would like to avoid the incurable brain disease

In a lab at Aarhus University in Denmark, researchers have made a discovery that could rewrite textbooks on the severe and fatal Alzheimer’s brain disease. And the discovery once again emphasises that you can do a lot to lower your personal risk significantly.

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