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Category: genetics – Page 16

Gene variant that protects against norovirus spread with arrival of agriculture, prehistoric DNA reveals

The arrival of agriculture coincided with a sharp rise in a gene variant that protected against the virus that causes winter vomiting, researchers from Karolinska Institutet and Linköping University report after analyzing DNA from over 4,300 prehistoric individuals and cultivating “mini guts.”

Winter vomiting disease is caused by the norovirus, which is most virulent during the colder half of the year. The infection clears up after a couple of days, but the protection it provides is short-lived, meaning that the same person can repeatedly fall sick in a short space of time. But some people cannot succumb to the virus, thanks to a particular gene variant.

“We wanted to trace the historical spread of the gene variant,” says Hugo Zeberg, senior lecturer in genetics at the Department of Physiology and Pharmacology, Karolinska Institutet, and researcher at the Max Planck Institute for Evolutionary Anthropology in Leipzig.

Psoriasis-linked gene mutation also impacts gut health, scientists discover

A mutation previously linked to skin disorders like psoriasis may also play a surprising role in gut health, according to new research published by scientists at VIB-UGent and colleagues from UGent, the University of Barcelona, and University College London. This mutation activates skin immune responses but also affects the intestine.

This finding, published in EMBO Molecular Medicine, reveals a new connection between genetics, the immune system, and the gut, which may have therapeutic implications.

Scientists under the leadership of Dr. Inna Afonina and Prof. Rudi Beyaert (VIB-UGent Center for Inflammation Research) have found that a mutation in the gene CARD14, known for activating skin immune responses in psoriasis patients, also affects the intestine. This mutation reduces gut motility, promotes mild inflammation, and increases vulnerability to bacterial infections.

Algorithm maps genetic connection between Alzheimer’s and specific neurons

The number of people living with dementia worldwide was estimated at 57 million in 2021 with nearly 10 million new cases recorded each year. In the U.S., dementia impacts more than 6 million lives, and the number of new cases is expected to double over the next few decades, according to a 2025 study. Despite advancements in the field, a full understanding of disease-causing mechanisms is still lacking.

To address this gap, Rice University researchers and collaborators at Boston University have developed a that can help identify which specific types of cells in the body are genetically linked to complex human traits and diseases, including in forms of dementia such as Alzheimer’s and Parkinson’s.

Known as “Single-cell Expression Integration System for Mapping genetically implicated Cell types,” or seismic, the tool helped the team hone in on genetic vulnerabilities in memory-making brain cells that link them to Alzheimer’s ⎯ the first to establish an association based on a genetic link between the disease and these specific neurons. The algorithm outperforms existing tools for identifying that are potentially relevant in complex diseases and is applicable in disease contexts beyond dementia.

Study unveils mechanisms driving axonal accumulation of TDP-43 and associated nerve damage in ALS

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle wasting and limb paralysis. This neurodegenerative condition results from the gradual destruction of motor neurons, the nerve cells that control muscles.

Past neuroscience studies have identified a TAR DNA-binding protein that plays a key role in ALS, known as TDP-43. This protein, which generally regulates RNA processing (i.e., how genetic information is managed inside cells), was found to abnormally accumulate in the axons (i.e., nerve fibers) of patients diagnosed with ALS.

Researchers at Tel Aviv University, Sheba Medical Center and other institutes carried out a study aimed at further exploring the mechanisms that underpin this local aggregation of TDP-43 in axons.

Toxic Salton Sea dust triggers changes in lung microbiome after just one week

Dust from California’s drying Salton Sea doesn’t just smell bad. Scientists from UC Riverside found that breathing the dust can quickly re-shape the microscopic world inside the lungs.

Genetic or have previously been shown to have an effect on lung microbes. However, this discovery marks the first time scientists have observed such changes from environmental exposure rather than a disease.

Published in the journal mSphere, the study shows that inhalation of airborne dust collected close to the shallow, landlocked lake alters both the microbial landscape and immune responses in mice that were otherwise healthy.

Ectopic expression of a mechanosensitive channel confers spatiotemporal resolution to ultrasound stimulations of neurons for visual restoration

Cadoni et al. show that expression of the bacterial sonogenetic ion channel MscL(G22S) allows focused ultrasound (FUS) neuromodulation of the mouse visual cortex. They even provide evidence for possible induction of a visual percept in mice via this approach, though much more work is needed to make this into a useful visual restoration method. It should be noted that some of the FUS frequencies used in Cadoni et al.’s experiments were quite high (15 MHz), so a surgically implanted cranial window was needed. I personally think that it would be better to focus on frequencies that can be employed in a transcranial fashion to minimize invasiveness. That said, there is still merit to moderately invasive methods as seen here. #sonogenetics [ https://www.nature.com/articles/s41565-023-01359-6](https://www.nature.com/articles/s41565-023-01359-6)

Sonogenetics provides neuron-specific activation at high spatiotemporal resolution ex vivo in retina and in vivo deep in the visual cortex using the AAV gene delivery of a mechanosensitive ion channel and low-intensity ultrasound stimulations.

Decoding the T cell burst: Signature genes predict T cell expansion in cancer immunotherapy

The ability of immune cells—particularly CD8+ T cells—to launch a rapid burst of proliferation inside tumors is key to the success of modern day cancer immunotherapies. However, the factors and mechanisms that drive this burst in proliferation remain poorly understood, making it difficult to predict which patients will benefit from treatment. A deeper understanding of this T cell burst could also guide the development of new therapies that enhance T cell proliferation and improve treatment outcomes.

To tackle this challenge, an international team of researchers led by Associate Professor Satoshi Ueha and Professor Kouji Matsushima from the Research Institute for Biomedical Sciences, Tokyo University of Science (TUS), Japan, developed a novel approach to monitor CD8⁺ T cell activity over time. Their findings, published in the journal Nature Communications on October 20, 2025, sheds new light on how T cells expand in the tumor—and how their expansion can be predicted, and ultimately, therapeutically reactivated.

“The development of immunotherapies has been hindered by our inability to comprehensively monitor their effects on —particularly cancer-fighting T cells—over time,” explains Dr. Ueha. “Building on our previous work, we developed a method to track these cells longitudinally in the tumor, allowing us to gain deeper insights into the burst of that drives effective anti-tumor responses.”

Gene deficiency that causes obesity also protects from heart disease, finds new study

Deficiency of the gene melanocortin 4 receptor (MC4R) is linked with obesity among adults. A recent study has found that the same deficiency also leads to surprising outcomes such as reduced risk of heart disease, lower cholesterol, and triglycerides. These results contradict the well-established correlation between obesity and cardiovascular diseases.

The researchers scanned the of 7,719 children from the Genetics of Obesity Study (GOOS) cohort. They identified 316 probands—first person in a family to draw medical attention to a —and 144 adult family members with obesity due to loss-of-function (LoF) MC4R mutations.

Even after adjusting for weight, these individuals showed better blood pressure profiles and when compared to 336,728 controls from the UK Biobank.

Advancing human leukocyte antigen-based cancer immunotherapy: from personalized to broad-spectrum strategies for genetically heterogeneous populations

Human leukocyte antigen (HLA)-based immunotherapeutics, such as tebentafusp-tebn and afamitresgene autoleucel, have expanded the treatment options for HLA-A*02-positive patients with rare solid tumors such as uveal melanoma, synovial sarcoma, and myxoid liposarcoma. Unfortunately, many patients of European, Latino/Hispanic, African, Asian, and Native American ancestry who carry non-HLA-A*02 alleles remain largely ineligible for most current HLA-based immunotherapies. This comprehensive review introduces HLA allotype-driven cancer health disparities (HACHD) as an emerging research focus, and examines how past and current HLA-targeted immunotherapeutic strategies may have inadvertently contributed to cancer health disparities. We discuss several preclinical and clinical strategies, including the incorporation of artificial intelligence (AI), to address HACHD.

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