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A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain—which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer’s Disease—that could be targeted for new therapies. The study was published today in Science.

Alzheimer’s disease (AD) is a neurodegenerative disease characterized by a buildup of proteins, called tau proteins, in certain parts of the brain. Following an examination of human brain tissue samples from a deceased donor with an unknown neurodegenerative disease, researchers discovered a novel mutation in the Valosin-containing protein (VCP) gene in the brain, a buildup of tau proteins in areas that were degenerating, and neurons with empty holes in them, called vacuoles. The team named the newly discovered disease Vacuolar Tauopathy (VT)—a neurodegenerative disease now characterized by the accumulation of neuronal vacuoles and tau protein aggregates.

“Within a cell, you have proteins coming together, and you need a process to also be able to pull them apart, because otherwise everything kind of gets gummed up and doesn’t work. VCP is often involved in those cases where it finds proteins in an aggregate and pulls them apart,” Edward Lee, MD, Ph.D., an assistant professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. “We think that the mutation impairs the proteins’ normal ability to break aggregates apart.”

Researchers at Rockefeller University have just released findings from a new study, done in mice, which identifies a gene that is critical for short-term memory but functions in a part of the brain not traditionally associated with memory. Classical models for short-term memory typically assume that all neuronal activity is contained within the prefrontal cortex (PFC), yet, data from this new study suggests that a G-protein coupled receptor in the thalamus may play a large role. Data from the study was published recently in Cell through an article titled “A Thalamic Orphan Receptor Drives Variability in Short Term Memory.”

Interestingly, in order to discover new genes and brain circuits that are important for short-term memory, the researchers turned to studying genetically diverse mice, rather than inbred mice commonly used in research.

“We needed a population that is diverse enough to be able to answer the question of what genetic differences might account for variation in short-term memory,” explained co-senior study investigator Praveen Sethupathy, PhD, an associate professor of biomedical sciences in Cornell’s College of Veterinary Medicine and director of the Cornell Center for Vertebrate Genomics.

Tesla has unveiled new advancements in battery technology. Here’s what it could mean for an electric jet.

The Hubble hits keep on coming.

The Hubble Space Telescope checked in on a supernova over the course of a year, watching the bright explosion gradually dim.

Fecal transplants could one day be used as a therapy to restore cognitive function in the elderly—according to new research from the University of East Anglia, the University of Florence and the Quadram Institute.

A new study published today shows how fecal transplants from older to younger mice altered their gut microbiome, which in turn impacted their spatial learning and memory.

Continue reading “Could a poo transplant one day be the secret of eternal youth?” »

Genes inherited from Neanderthal ancestors may be involved in some cases of severe Covid-19 disease, researchers in Germany reported Wednesday.

A team of experts on Neanderthal genetics examined a strand of DNA that has been associated with some of the more serious cases of Covid-19 and compared it to sequences known to have been passed down to living Europeans and Asians from Neanderthal ancestors.

The DNA strand is found on chromosome 3, and a team of researchers in Europe has linked certain variations in this sequence with the risk of being more severely ill with Covid-19.

CAPE CANAVERAL, Fla. (AP) — NASA’s first new space potty in decades — a $23 million titanium toilet better suited for women — is getting a not-so-dry run at the International Space Station before eventually flying to the moon.

It’s packed inside a cargo ship that should have blasted off late Thursday from Wallops Island, Virginia. But the launch was aborted with just two minutes remaining in the countdown. Northrop Grumman said it would try again Friday night if engineers can figure out what went wrong.

Barely 100 pounds (45 kilograms) and just 28 inches (71 centimeters) tall, the new toilet is roughly half as big as the two Russian-built ones at the space station. It’s more camper-size to fit into the NASA Orion capsules that will carry astronauts to the moon in a few years.

O,.o.

BT and Toshiba have deployed an ‘unhackable’ quantum network that uses streams of photons to encrypt sensitive communications.

Continue reading “This ‘unhackable’ network uses the weird power of quantum physics” »

China’s insistence on a 1959 claim line and its stance on Ladakh are doing little to ease border tensions with India, say analysts.