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Research published in The American Journal of Human Genetics has identified a previously unknown genetic link to autism spectrum disorder (ASD). The study found that variants in the DDX53 gene contribute to ASD, providing new insights into the genetic underpinnings of the condition.

ASD, which affects more males than females, encompasses a group of neurodevelopmental conditions that result in challenges related to communication, social understanding and behavior. While DDX53, located on the X chromosome, is known to play a role in brain development and function, it was not previously definitively associated with autism.

In the study, researchers from The Hospital for Sick Children (SickKids) in Canada and the Istituto Giannina Gaslini in Italy clinically tested 10 individuals with ASD from eight different families and found that variants in the DDX53 gene were maternally inherited and present in these individuals. Notably, the majority were male, highlighting the gene’s potential role in the male predominance observed in ASD.

Penn Engineers have modified lipid nanoparticles (LNPs)—the revolutionary technology behind the COVID-19 mRNA vaccines—to not only cross the blood-brain barrier (BBB) but also to target specific types of cells, including neurons. This breakthrough marks a significant step toward potential next-generation treatments for neurological diseases like Alzheimer’s and Parkinson’s.

In a new paper in Nano Letters, the researchers demonstrate how peptides —short strings of amino acids —can serve as precise targeting molecules, enabling LNPs to deliver mRNA specifically to the endothelial cells that line the blood vessels of the brain, as well as neurons.

This represents an important advance in delivering mRNA to the cell types that would be key in treating neurodegenerative diseases; any such treatments will need to ensure that mRNA arrives at the correct location. Previous work by the same researchers proved that LNPs can cross the BBB and deliver mRNA to the brain, but did not attempt to control which cells the LNPs targeted.

Certain cells in the brain create a nurturing environment, enhancing the health and resilience of their neighbors, while others promote stress and damage. Using spatial transcriptomics and AI, researchers at Stanford’s Knight Initiative for Brain Resilience discovered these interactions playing out across the lifespan—suggesting local cellular interactions may significantly influence brain aging and resilience.

A new study was published in Nature in an article titled, “Spatial transcriptomic clocks reveal cell proximity effects in brain aging.”

“What was exciting to us was finding that some cells have a pro-aging effect on neighboring cells while others appear to have a rejuvenating effect on their neighbors,” said Anne Brunet, the Michele and Timothy Barakett Endowed Professor in Stanford’s department of genetics and co-senior investigator of the new study.

The field “touches on all the questions that humanity has asked since it was walking on this planet,” says Moshe Szyf, a professor of pharmacology at McGill University. “How much of our destiny is predetermined? How much of it do we control?”

For some people, the concept that we can carry a legacy of trauma makes sense because it validates their sense that they are more than the sum of their experiences.

“If you feel you have been affected by a very traumatic, difficult, life-altering experience that your mother or father has had, there’s something to that,” says Rachel Yehuda, professor of psychiatry and neuroscience of trauma at Mount Sinai in New York. Her research points to a small epigenetic “signal” that a life-altering experience “doesn’t just die with you,” she says. “It has a life of its own afterwards in some form.”

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Continue reading “Antiviral Medication Use Is Associated With Reduced Dementia Risk: Amy Proal, PhD” »

Thanks to their genetic makeup, their ability to navigate mazes and their willingness to work for cheese, mice have long been a go-to model for behavioral and neurological studies.

In recent years, they have entered a new arena—virtual reality—and now Cornell researchers have built miniature VR headsets to immerse them more deeply in it.

The team’s MouseGoggles—yes, they look as cute as they sound—were created using low-cost, off-the-shelf components, such as smartwatch displays and tiny lenses, and offer visual stimulation over a wide field of view while tracking the mouse’s eye movements and changes in pupil size.

Summary: Researchers identified variants in the DDX53 gene, located on the X chromosome, as contributors to autism spectrum disorder (ASD). These genetic variants, found predominantly in males, provide critical insights into the biological mechanisms behind autism’s male predominance.

The study also uncovered another potential gene, PTCHD1-AS, near DDX53, linked to autism, emphasizing the complexity of ASD’s genetic architecture. This research highlights the importance of the X chromosome in ASD and opens avenues for more precise diagnostics and therapeutics.

Continue reading “New Genetic Link to Autism Identified on X Chromosome” »

The trans–Tango genetic strategy, which mediates signaling across synapses, was adapted to identify neural connections in a vertebrate nervous system, with synaptic partners confirmed in the retina and spinal cord of larval zebrafish.

Caltech researchers have developed a new method to map the positions of hundreds of DNA-associated proteins within cell nuclei all at the same time. The method, called ChIP–DIP (Chromatin ImmunoPrecipitation Done In Parallel), is a versatile tool for understanding the inner workings of the nucleus during different contexts, such as disease or development.

The research was conducted in the laboratory of Mitchell Guttman, professor of biology, and is described in a paper that appears in the journal Nature Genetics.

Nearly all cells in the human body contain the same DNA, which encodes the blueprint for creating every cell type in the body and directing their activities. Despite having the same genetic material, different cell types express unique sets of proteins, allowing for the various cells to perform their specialized functions and to adapt to conditions within their environments. This is possible because of careful regulation within the nucleus of each cell and involves thousands of regulatory proteins that localize to precise places in the nucleus.