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Researchers from Children’s Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world. The study “Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish” is published in Science Advances today, April 26.
The as-yet unnamed disorder is the result of a series of rare variants in the MAP4K4 gene, which is involved in many signaling pathways, including the RAS pathway that normal cell growth, and is being investigated as druggable target for multiple disorders.
The researchers had documented several patients with craniofacial and neurodevelopmental issues that indicated a then-unknown genetic cause. They put out an international call for patients who seemed to fit these specific criteria. Ultimately, they were able to identify patients from 36 countries to determine whether there was a genetic variant linking them to their clinical issues.
A Spanish startup has built a sperm-injecting robot that can be controlled using a PlayStation controller. The team successfully used it to fertilize human eggs, eventually resulting in the birth of two healthy babies.
As MIT Technology Review reports, one of the engineers working on the world’s first insemination robot didn’t have all that much experience in the field of fertility medicine — which was where the PlayStation 5 controller came into, well, play.
Using the controller, a student engineer from startup Overture Life [name after descriptor] steered a tiny, mechanized in-vitro fertilization (IVF) needle to deposit single sperm cells into human eggs more than a dozen times.
A team of researchers at the U.S. Department of Energy’s Argonne National Laboratory has developed a new scientific tool called Polybot that combines artificial intelligence with robotics. This tool is set to revolutionize polymer electronics research by speeding up the discovery process of materials with multiple applications, from wearable biomedical devices to better batteries, according to a release.
Polymer electronics are the future of flexible electronics. They are efficient and sustainable, used to monitor health and treat certain diseases, among other things. However, the current methods used to prepare these polymers for electronics can take years of intense labor. To achieve targeted performance, there are an overwhelming number of potential tweaks, from spiking the fabrication recipe with different formulations to varying the processing conditions.
Genetic conditions like Dravet syndrome are hard to tackle with traditional gene therapy. But new approaches are in the works.
Suvorexant (Belsomra), a dual orexin receptor antagonist approved for insomnia, reduced levels of tau phosphorylation and amyloid beta, a small clinical trialopens in a new tab or window showed.
The ratio of phosphorylated tau-threonine-181 (p-tau-181) to unphosphorylated tau-threonine-181 decreased 10% to 15% in cognitively normal adults treated with suvorexant 20 mg compared with placebo, reported Brendan Lucey, MD, MSCI, of Washington University School of Medicine in St. Louis, and co-authors.
Amyloid-beta levels fell 10% to 20% compared with placebo starting 5 hours after suvorexant administration, the researchers wrote in Annals of Neurologyopens in a new tab or window.
— Both amyloid and tau levels fell in early trial.
Researchers from the Keck School of Medicine of USC have discovered that being exposed to a mixture of synthetic chemicals commonly present in the environment affects multiple crucial biological processes in both children and young adults. These processes include the metabolism of fats and amino acids.
<div class=””> <div class=””><br />Amino acids are a set of organic compounds used to build proteins. There are about 500 naturally occurring known amino acids, though only 20 appear in the genetic code. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes. Nine proteinogenic amino acids are called “essential” for humans because they cannot be produced from other compounds by the human body and so must be taken in as food.<br /></div> </div>
Researchers at Baylor College of Medicine have unraveled the processes that give astrocytes, the most abundant glial cell in the brain, their special bushy shape, which is fundamental for brain function. They report in the journal Nature that neuronal activity is necessary and sufficient for astrocytes to develop their complex shape, and interrupting this developmental process results in disrupted brain function.
“Astrocytes play diverse roles that are vital for proper brain function,” said first author Yi-Ting Cheng, a graduate student in Dr. Benjamin Deneen’s lab at Baylor. “For instance, they support the activity of other essential brain cells, neurons; participate in the formation and function of synapses, or neuron-to-neuron connections; release neurotransmitters, chemicals that mediate neuronal communication; and make the blood-brain barrier.”
In the adult brain, the bushy shape of astrocytes is fundamentally linked to effective brain function. The ends of the branched-out astrocyte structure interact with neurons and regulate synaptic activity.
Summary: Researchers shed new light on the molecular and genetic basis of long-term memory formation in the brain. A new study reveals a single stimulation to the synapses of hippocampal neurons triggered numerous cycles where the memory-coding Arc gene produced mRNA molecules that were then translated into synapse-strengthening Arc proteins. From the findings, researchers determined a novel feedback loop that helps explain how short-lived mRNA and proteins create long-term memories in the brain.
Source: albert einstein college of medicine.
Helping your mother make pancakes when you were three…riding your bike without training wheels…your first romantic kiss: How do we retain vivid memories of long-ago events?
Summary: An international team of scientists has identified a gene in the brain responsible for anxiety symptoms and found that modifying the gene can reduce anxiety levels, offering a novel drug target for anxiety disorders. The discovery highlights a new amygdala miR483-5p/Pgap2 pathway that regulates the brain’s response to stress and provides a potential therapeutic approach for anxiety disorders.
Source: University of Bristol.
A gene in the brain driving anxiety symptoms has been identified by an international team of scientists. Critically, modification of the gene is shown to reduce anxiety levels, offering an exciting novel drug target for anxiety disorders.
