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Category: genetics

How an antiviral defense mechanism may lead to Alzheimer’s disease

One of the main proteins that contributes to Alzheimer’s disease is called phospho-tau (p-tau). When p-tau gets too many phosphate groups attached to it (a process called hyperphosphorylation), it starts to stick together and form clumps called “tangles” inside of brain nerve cells.

A new study by Mass General Brigham investigators shows that tau hyperphosphorylation may be a consequence of an antiviral response that protects the brain from infection. Results are published in Nature Neuroscience.

“As a geneticist, I always wondered why humans had evolved gene mutations predisposing to Alzheimer’s disease,” said senior author Rudolph Tanzi, Ph.D., Director of the McCance Center for Brain Health and Genetics and Aging Research Unit in the Mass General Brigham Department of Neurology.

Scientists grow mini brains to uncover cells behind autism-related brain overgrowth

A new study in the lab of Jason Stein, Ph.D., modeled brain development in a dish to identify cells and genes that influence infant brain growth, a trait associated with autism.

Researchers have made great strides to understand early signs of autism.

Studies have found that certain factors like genetics, sleep deprivation, excess fluid in the brain—and brain size—can increase the risk of neurodevelopmental conditions, like autism.

Single Injection Transforms the Immune System Into a Cancer-Killing Machine

Despite risks, results from both trials highlight the promise of one-and-done CAR T therapy for deadly blood cancers. But it’s still early days. Scientists need to carefully follow patients over years to understand how long upgraded T cells remain in the body and their effect on cancers.

And not all viral carriers are made the same. Lentiviruses, used in both studies, can tunnel into the human genome, causing DNA typos that potentially trigger secondary cancers. The durability of the therapy, its longevity, and immune side effects also need to be studied.

Kelonia is adding more patients to their trial, amid an increasingly competitive landscape. AstraZeneca has acquired EsoBiotec to bring its technology to market. AbbVie, a drug company in Illinois, is testing the delivery of gene-editing tools to T cells via fatty nanoparticles in clinical trials. And Kelonia is planning a second clinical trial with an initial 20 patients and 20 more in an expansion phase, none of whom responded to at least three previous treatments.

Evidence for improved DNA repair in the long-lived bowhead whale

At more than 200 years, the maximum lifespan of the bowhead whale exceeds that of all other mammals. The bowhead is also the second-largest animal on Earth1, reaching over 80,000 kg. Despite its very large number of cells and long lifespan, the bowhead is not highly cancer-prone, an incongruity termed Peto’s paradox2.

Here, to understand the mechanisms that underlie the cancer resistance of the bowhead whale, we examined the number of oncogenic hits required for malignant transformation of whale primary fibroblasts. Unexpectedly, bowhead whale fibroblasts required fewer oncogenic hits to undergo malignant transformation than human fibroblasts. However, bowhead whale cells exhibited enhanced DNA double-strand break repair capacity and fidelity, and lower mutation rates than cells of other mammals. We found the cold-inducible RNA-binding protein CIRBP to be highly expressed in bowhead fibroblasts and tissues.

Bowhead whale CIRBP enhanced both non-homologous end joining and homologous recombination repair in human cells, reduced micronuclei formation, promoted DNA end protection, and stimulated end joining in vitro. CIRBP overexpression in Drosophila extended lifespan and improved resistance to irradiation. These findings provide evidence supporting the hypothesis that, rather than relying on additional tumour suppressor genes to prevent oncogenesis3,4,5, the bowhead whale maintains genome integrity through enhanced DNA repair. This strategy, which does not eliminate damaged cells but faithfully repairs them, may be contributing to the exceptional longevity and low cancer incidence in the bowhead whale.

Analysis of the longest-lived mammal, the bowhead whale, reveals an improved ability to repair DNA breaks, mediated by high levels of cold-inducible RNA-binding protein.

Seasonal influenza

Seasonal influenza activity has increased globally in recent months, and influenza A(H3N2) viruses are predominant. This rise coincides with the onset of winter in the northern hemisphere. Epidemics and outbreaks of seasonal influenza and other circulating respiratory viruses can place significant pressure on healthcare systems. Although global activity remains within expected seasonal ranges, early increases and higher activity than typical at this time of year have been observed in some regions. Seasonal influenza could place significant pressure on healthcare systems even in non-temperate countries. Genetically drifted influenza A(H3N2) viruses, known as subclade K viruses, have been detected in many countries. While data on how well the vaccine works against clinical disease this season are still limited, vaccination is still expected to protect against severe illness and remains one of the most effective public health measures.

Surveillance

Due to the constantly evolving nature of influenza viruses, WHO continues to stress the importance of year-round global surveillance to detect and monitor virological, epidemiological and clinical changes associated with emerging or circulating influenza viruses that may affect human health and timely virus sharing for risk assessment. Countries are encouraged to remain vigilant to the threat of influenza viruses and review any unusual epidemiological patterns.

A blood DNA methylation test reveals how quickly each organ system is aging

We developed a single blood-based methylation test that estimates biological aging across 11 physiological systems. This multisystem measure predicts mortality and health outcomes more precisely than existing epigenetic clocks, and reveals distinct aging patterns that could guide personalized gerotherapeutic and geroprotective interventions.

A new tool is revealing the invisible networks inside cancer

Spanish researchers have created a powerful new open-source tool that helps uncover the hidden genetic networks driving cancer. Called RNACOREX, the software can analyze thousands of molecular interactions at once, revealing how genes communicate inside tumors and how those signals relate to patient survival. Tested across 13 different cancer types using international data, the tool matches the predictive power of advanced AI systems—while offering something rare in modern analytics: clear, interpretable explanations that help scientists understand why tumors behave the way they do.

Optogenetic Cancer Therapy Using the Light-Driven Outward Proton Pump Rhodopsin Archaerhodopsin-3 (AR3)Click to copy article linkArticle link copied!

Medicines used for cancer treatment often cause serious side effects by damaging normal cells due to nonspecific diffusion. To address this issue, we previously developed an optical method to induce apoptotic cell death via intracellular pH alkalinization using the outward proton pump rhodopsin, Archaerhodopsin-3 (AR3) in various noncancer model cells in vitro and in vivo. In this study, we applied this method to cancer cells and tumors to evaluate its potential as an anticancer therapeutic strategy. First, we confirmed that AR3-expressing murine cancer cell lines (MC38, B16F10) showed apoptotic cell death upon green light irradiation, as indicated by increased levels of cell death and apoptosis-related markers. Next, we established stable AR3-expressing MC38 and B16F10 cells by using viral vectors. When these AR3-expressing cells were subcutaneously transplanted into C57BL/6 mice, the resulting tumors initially grew at a rate comparable to that of control tumors lacking AR3 expression or light stimulation. However, upon green light irradiation, AR3-expressing tumors exhibited either a marked reduction in size or significantly suppressed growth, accompanied by the induction of apoptosis signals and decreased proliferation signals. These results demonstrate that AR3-mediated cell death has potent antitumor effects both in vitro and in vivo. This optical method thus holds promise as a novel cancer therapy with potentially reduced side effects.

Scientists chart over 140,000 DNA loops to map human chromosomes in the nucleus

One of the most detailed 3D maps of how the human chromosomes are organized and folded within a cell’s nucleus is published in Nature.

Chromosomes are thread-like structures that carry a cell’s genetic information inside the nucleus. Rather than existing as loose strands or only as the familiar X-shapes seen in textbooks, chromosomes fold into specific three-dimensional forms. How they fold, the structures they form, and their placement play crucial roles in maintaining proper cellular functions, gene expression, and DNA replication.

The team involved in the 4D Nucleome Project, whose goal was to understand the 3D organization of human chromosomes in the nucleus and how it changes over time, identified over 140,000 DNA looping interactions in human embryonic stem cells and fibroblasts. They also presented computational methods that can predict genome folding solely from its DNA sequence, making it easier to determine how genetic variations—including those linked to disease—affect genome structure and function.

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