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Category: genetics

Study reveals hidden regulatory roles of ‘junk’ DNA

A new international study suggests that ancient viral DNA embedded in our genome, which were long dismissed as genetic “junk,” may actually play powerful roles in regulating gene expression. Focusing on a family of sequences called MER11, researchers from Japan, China, Canada, and the US have shown that these elements have evolved to influence how genes turn on and off, particularly in early human development.

The findings are published in the journal Science Advances.

Transposable elements (TEs) are repetitive DNA sequences in the genome that originated from ancient viruses. Over millions of years, they spread throughout the genome via copy-and-paste mechanisms.

A common food additive solves a sticky neuroscience problem

An interdisciplinary team working on balls of human neurons called organoids wanted to scale up their efforts and take on important new questions. The solution was all around them.

For close to a decade now, the Stanford Brain Organogenesis Program has spearheaded a revolutionary approach to studying the brain: Rather than probe intact brain tissues in humans and other animals, they grow three-dimensional brain-like tissues in the lab from , creating models called human neural organoids and assembloids.

Beginning in 2018 as a Big Ideas in Neuroscience project of Stanford’s Wu Tsai Neurosciences Institute, the program has brought together neuroscientists, chemists, engineers, and others to tackle the neural circuits involved in pain, genes that drive neurodevelopmental disorders, new ways to study brain circuits, and more.

Different Bacterial Genes Have Different Turn-Ons

Not all genes respond in the same way to regulation by the same molecule—a property that might enable cells to produce complex genetic responses.

Genes in living cells may become active or may be suppressed in response to environmental stimuli such as heat or the availability of nutrients. For bacteria, this gene regulation often appears to be a simple “on-off switch” controlled by regulatory proteins called transcription factors (TFs). But researchers have now found that different genes might respond differently to the same stimulus even if they are regulated by the same TF [1]. The team activated genes involved in DNA repair and observed gene-to-gene variations in their protein production patterns. Such differences might have been exploited by evolution to achieve complex responses with relatively few molecular components, the researchers suggest.

In the typical scenario, a TF binds to a region of a so-called promoter, a DNA sequence next to a gene. If the TF is the type that blocks gene expression, it prevents the enzyme RNA polymerase from binding and thus from beginning the process of producing the protein that the gene encodes. Because of thermal fluctuations (noise), the TF may spontaneously unbind, allowing gene expression to proceed until it rebinds. The rate of TF binding depends on its concentration, so fluctuations in concentration will cause changes in gene expression.

Extracellular vesicles from antler blastema progenitor cells reverse bone loss and mitigate aging-related phenotypes in mice and macaques

Antler blastema progenitor cells (ABPCs) are a distinct population of skeletal mesenchymal stem cells found in regenerating deer antlers, with strong stemness and renewal capacity in vitro. Stem cell-derived extracellular vesicles (EVs) are emerging as potential therapeutic candidates that can mediate donor cells’ beneficial effects. Here, we tested the effects of ABPC-derived EVs (EVsABPC) on aging in mice and rhesus macaques (Macaca mulatta). We identified a variety of unique factors in EVsABPC and showed that in vitro, EVsABPC attenuated phenotypes of senescence in bone marrow stem cells. In aged mice and macaques, EVsABPC substantially increased femoral bone mineral density. Further, intravenous EVsABPC improved physical performance, enhanced cognitive function and reduced systemic inflammation in aged mice, while reversing epigenetic age by over 3 months. In macaques, EVABPC treatment was also neuroprotective, reduced inflammation, improved locomotor function and reduced epigenetic age by over 2 years. Our findings position ABPCs as an emerging and practical source of EVs with translational value for healthy aging interventions.

Inspired by the regenerative capacity of deer antlers, Hao and colleagues report that antler blastema progenitor cell-derived extracellular vesicle treatment counteracts bone loss and epigenetic aging and is neuroprotective in mice and macaques.

What ever-growing incisors can teach us about genetic disease

Teeth may seem like static fixtures, but a new collaboration between engineers and clinicians is proving just how dynamic, informative and medically significant our teeth can be.

In a study, published in ACS Applied Materials & Interfaces, engineers and dentists come together to uncover how teeth, as , hold key information for understanding rare craniofacial disorders that develop during childhood.

Kyle Vining, Assistant Professor in Materials Science and Engineering (MSE) and in Preventive and Restorative Science at Penn Dental Medicine, leads this interdisciplinary team, which includes Yuchen (Tracy) Jiang, a former master’s student in MSE, Kei Katsura, a pediatric dentist and KL2 postdoctoral research scholar at Children’s Hospital of Philadelphia (CHOP) and the Institute of Translational Medicine and Therapeutics at Penn, and Elizabeth Bhoj, Assistant Professor of Pediatrics in Penn Medicine and the Division of Human Genetics at CHOP.

Gene editing offers transformative solution to saving endangered species

Gene editing technologies—such as those used in agriculture and de-extinction projects—can be repurposed to offer what an international team of scientists is calling a transformative solution for restoring genetic diversity and saving endangered species.

Study sheds light on how inherited cancer mutations drive tumor growth

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked. A new study, led by researchers at Washington University School of Medicine in St. Louis, takes a deep dive into inherited cancer mutations measured in a healthy blood sample and reports how those mutations might take a toll on the body’s cells starting at birth, perhaps predisposing a person to develop cancers at various stages of life.

The authors analyzed the inherited genomes of more than 1,000 cancer patients and determined how inherited mutations — also known as germline variants — result in malfunctioning proteins, which in turn can impair physiological activities. The findings have implications for determining an individual’s inherited cancer risk and informing potential new strategies for prevention, early detection and treatment.

The study appears April 14 in the journal Cell.

Findings could help predict cancer risk over a person’s lifetime, develop prevention strategies.

Researchers develop novel antibody-RNA therapy for resistant cancers

A specially engineered antibody that can accurately deliver RNA treatments into hard-to-reach and hard-to-treat tumors significantly improved survival and reduced tumor sizes in animal models, according to a study reported in Science Translational Medicine.

The study provides evidence that, once injected into the bloodstream, the antibody TMAB3, combined with a type of RNA that stimulates an innate immune reaction, can localize to tumors and penetrate and destroy stubborn diseased cells in pancreatic, brain, and .

“Delivery of RNA-based therapies to tumors has been a challenge. Our finding that TMAB3 can form antibody/RNA complexes capable of delivering RNA payloads to tumors provides a new approach to overcome this challenge,” says Peter Glazer, senior author and Robert E. Hunter Professor of Therapeutic Radiology and Genetics at Yale School of Medicine (YSM).