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Category: genetics – Page 6

Light-triggered arrhythmia reveals rapid brain oxygen shifts in mice

An irregular heartbeat, or arrhythmia, leads to inefficient pumping of blood by the heart, which then prevents blood and oxygen from getting to the body’s other organs. When blood and oxygen flow poorly to the brain, the risk of stroke and cognitive decline increases.

A team of researchers based at Washington University in St. Louis used cardiac optogenetics to noninvasively study arrhythmia and its impact on the brain. Using highly sensitive imaging in a mouse model, they found that arrhythmia in a mouse heart alters oxygen concentration in the brain during and after arrhythmia.

Results of the research are published in Science Advances.

Fragile X deficits in mice respond to gene therapy

A gene therapy designed to replace a missing brain protein restored normal brain activity and improved behavior in a mouse model of fragile X syndrome (FXS), according to a study led by researchers at the University of California, Riverside. The findings, published in Molecular Therapy Nucleic Acids, suggest that gene therapy may one day address the underlying cause of FXS rather than simply treating its symptoms.

FXS affects approximately 2–3% of individuals diagnosed with autism and is one of the best-defined genetic causes of neurodevelopmental disability. The condition occurs when a mutation in the FMR1 gene prevents the production of fragile X messenger ribonucleoprotein (FMRP), a protein that regulates communication between brain cells.

“In a typical brain, FMRP acts like a brake or a volume control,” said Iryna Ethell, the paper’s senior author and a professor of biomedical sciences in the UCR School of Medicine. “Without it, neural circuits become overactive and less efficient, which contributes to many of the developmental and behavioral challenges associated with FXS.”

Scientists uncover a genetic ‘shield’ that lowers the risk of colorectal cancer

A team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S. have published a new paper on the role of TGFBR1*6A, a naturally occurring genetic mutation in the TGFBR1 gene found in approximately 14% of the general population.

The study, “TGFBR1*6A and risk for colorectal cancer,” published June 9, 2026, in Cancer Communications, focuses on TGFBR1*6A and how it influences a person’s risk of developing colorectal cancer. Dr. Boris Pasche, president and CEO of the Karmanos Cancer Institute and chair of the Wayne State University Department of Oncology, was the first to discover TGFBR1*6A as a cancer risk allele.

“This mutation has often been overlooked by genome-wide association study chips, which cannot detect TGFBR1*6A, and is commonly missed by next-generation sequencing platforms due to the complexity of the region,” said Dr. Allan Johansen, a postdoctoral fellow and first author of the paper.

Quantum-inspired AI could tailor patients’ cancer treatment to their entire molecular background

For a child diagnosed with neuroblastoma—the most common infant cancer, occurring when early nerve cells grow out of control—the path to treatment isn’t simple. Some types of neuroblastoma resolve on their own, while others require aggressive intervention. Researchers have tried matching treatments to patients based on one-gene mutations with limited success. This is because patients’ outcomes depend on their entire molecular background, containing millions or even billions of features, such as DNA and RNA from tissues and blood.

“It’s much more than just one gene—everything that’s happening in the cells of the patient matters,” said Orly Alter, an associate professor of biomedical engineering at the University of Utah’s Scientific Computing & Imaging Institute.

Current artificial intelligence and machine learning (AI/ML) approaches require massive amounts of training data and, specifically, vastly more patient samples than genetic features.

Intracellular mechanisms promote tumor survival during hypoxia

Northwestern Medicine scientists have, for the first time, described the underlying mechanisms that regulate how cells rapidly change gene expression in response to hypoxia, a key feature of many treatment-resistant tumors, according to a recent study published in Science Advances.

Ali Shilatifard, Ph.D., the chair and Robert Francis Furchgott Professor of Biochemistry and Molecular Genetics, was the senior author of the study.

Scientists found an 8-year-old Neanderthal child in a Belgian cave, and the molar DNA found is said to be the oldest human genetic code ever sequenced, turning one hillside into a rare window on our deep past

Scientists have uncovered the oldest human genetic code from an 8-year-old Neanderthal child in Belgium, offering profound insights into our evolutionary past and Neanderthal development.

Breastfeeding may protect against ADHD symptoms

A new study from the University of Bergen shows an association between breastfeeding up to 6 months of age and a reduced risk of ADHD symptoms from ages 3 to 8.

Breast milk is the primary source of nutrition for infants. It is uniquely tailored for the child and contains numerous components beneficial for growth and brain development, including long-chain fatty acids, amino acids, antibodies and beneficial bacteria.

“It is well established that psychiatric symptoms and disorders can be influenced by both genetic and environmental factors,” says Berit Skretting Solberg, psychiatrist and researcher at the Department of Biomedicine, University of Bergen, and senior consultant at Betanien Hospital.

High-resolution mapping of CCR4-NOT recruitment elements reveals transcriptome-wide drivers of mRNA decay

Luo et al. present TRACER, a transcriptome-wide approach to identify RNA elements that recruit the CCR4-NOT complex. TRACER uncovers thousands of CCR4-NOT-associated elements, many mapping to known or predicted RBP and miRNA target sites. These elements drive mRNA repression and can be targeted using gene editing or ASO approaches.

Humans Were Injected: BREAKTHROUGH Age Reversal For Every Tissue

Life Biosciences just dosed the first human patient with ER-100 — an OSK gene therapy built from three Yamanaka factors, designed to reprogram old cells back toward a younger state. The first target is the eye. But the real implication is much bigger: this method appears to work on every tissue type it has been tried on.

If this first eye trial comes back safe, it could be the first domino in a much larger age-reversal wave: eye, liver, brain, skin, muscle, heart, kidney, blood vessels — potentially every tissue in the body.

This episode reveals the tidal wave of companies racing toward human trials using the same basic strategy: epigenetically reprogramming old cells so they behave young again. Billions of dollars are pouring into this from Jeff Bezos, Sam Altman, Brian Armstrong, Peter Thiel, and the biggest names in longevity biotech.

We walk through who they are, what they are trying to cure, why the eye came first, what worked in mice and monkeys, why NewLimit is going after liver rejuvenation, and whether the cheap pill version could be right behind the expensive gene therapy.

Bottom line: real age reversal is now in a human trial.

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ROS-producing enzymes guide plant cell division and tissue patterning, gene-editing study shows

Reactive oxygen species (ROS) produced naturally during cellular metabolism often cause oxidative damage to cells. However, these molecules also play an important role in normal cellular signaling. While ROS are established as essential signaling molecules in various organisms, their precise role in basic plant development and morphogenesis remains unclear.

A family of enzymes known as NADPH oxidases (NOXs) generates ROS that act as physiologically important signaling molecules. In plants, the NOX enzymes are known as respiratory burst oxidase homologs (RBOHs), which are implicated in diverse physiological processes. However, their contribution to plant development, including cell proliferation and ordered morphogenesis, has remained insufficiently understood.

To address this gap, a team of researchers led by Professor Kazuyuki Kuchitsu from the Department of Applied Biological Science at Tokyo University of Science (TUS) in Japan conducted a study.

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