. Scientific Frontline

Monday, April 24, 2023

Researchers Identify a New Genetic Culprit in Canine Bladder Cancers

Photo Credit: Lucie Helešicová

Researchers have identified new genetic mutations linked to a subset of canine bladder cancers. Their findings have implications both for early cancer detection and for targeted treatments in dogs and humans.

Previous research showed that 85% of canine urothelial carcinomas (a type of bladder cancer) share a specific mutation in a gene named BRAF. This mutation (known as V595E) is caused by an error in BRAF’s genetic code, where a normal ‘T’ nucleotide in the DNA sequence is substituted by an ‘A’. The BRAF V595E mutation results in abnormal activation of a genetic signaling pathway called MAPK, leading to uncontrolled cellular growth, or proliferation.

“Essentially, BRAF V595E generates an abnormal protein that instructs the cells to keep dividing, forming a tumor. So, if this single nucleotide substitution in the BRAF gene is detected in 85% of all canine urothelial carcinomas, why is it not in all of them?” asks Matthew Breen, Oscar J. Fletcher Distinguished Professor of Comparative Oncology Genetics at North Carolina State University and corresponding author of the research. “Pathologists see no difference between those cancers with this mutation and those without, so what’s going on with that other 15%?”

Pioneering research sheds new light on the origins and composition of planet Mars

The InSight mission’s seismometer, though coated by several years of Martian dust, was able to capture recordings of seismic events from the far side of the planet. NASA's InSight Mars lander acquired this image of the area in front of the lander using its lander-mounted Instrument Context Camera (ICC).
Image Credit: NASA/JPL-Caltech

A new study has uncovered intriguing insights into the liquid core at the center of Mars, furthering understanding of the planet’s formation and evolution.

The research, led by the University of Bristol and published in the journal Proceedings of the National Academy of Sciences of the US, reveals the first-ever detections of sound waves travelling into the Martian core. Measurements from this acoustic energy, called seismic waves, indicate its liquid core is slightly denser and smaller than previously thought, and comprises a mixture of iron and numerous other elements.

The findings are all the more remarkable, as the research mission was initially only scheduled to last for a little over one Mars year (two Earth years). Despite Martian storms hastening the accumulation of dust and reducing power to the NASA InSight Mars lander, NASA extended its stay, so geophysical data, including signals of marsquakes, continued to be gathered until the end of last year.

Earliest animal likely used chemical signaling to evolve into multicellular organism

J.P. Gerdt is an assistant professor of chemistry in the IU Bloomington College of Arts and Sciences.
 Photo Credit: Courtesy of J.P. Gerdt

The earliest animal likely used chemical signaling to evolve from a single cell to a multicellular organism, according to a study led by an Indiana University Bloomington scientist. The findings provide new information about how one of the biggest transitions in the history of life on earth likely occurred.

J.P. Gerdt, assistant professor of chemistry in the IU Bloomington College of Arts and Sciences, led the study, along with Núria Ros-Rocher of the Institute of Evolutionary Biology in Barcelona, Spain. Their findings are published in the Proceedings of the National Academy of Sciences.

“The general view is that animals evolved from a unicellular organism, and this research helps explain how that may have happened and how those cells chose whether to be together or on their own,” Gerdt said. “Our results help us understand more about the first animals and their ancestors.”

Mudskippers Could Be Key to Understanding Evolution of Blinking

Indian mudskipper P. septemradiatus
Photo Credit: Courtesy of Georgia Institute of Technology

Blinking is crucial for the eye. It’s how animals clean their eyes, protect them, and even communicate. But how and why did blinking originate? Researchers at the Georgia Institute of Technology, Seton Hill University, and Pennsylvania State University studied the mudskipper, an amphibious fish that spends most of its day on land, to better understand why blinking is a fundamental behavior for life on land.

Although mudskippers are distantly related to tetrapods, the group that includes humans and other four-limbed vertebrates, researchers believed studying the fish could unlock how blinking evolved as these animals began to move on land. 

The research team, which included several undergraduates, published their findings in the paper, “The Origin of Blinking in Both Mudskippers and Tetrapods Is Linked to Life on Land,” in Proceedings of the National Academies of Science.

“By comparing the anatomy and behavior of mudskippers to the fossil record of early tetrapods, we argue that blinking emerged in both groups as an adaptation to life on land,” said Tom Stewart, an assistant professor at Penn State and an author of the paper. “These results help us understand our own biology and raise a whole set of new questions about the variety of blinking behaviors we see in living species.”

Researchers discover new self-assembled crystal structures

 Conceptual image showcasing several interaction potential shapes, represented by stems, that will lead to the self-assembly of new low-coordinated crystal structures, represented by flowers. 
Image Credit: Hillary Pan

Using a targeted computational approach, researchers in the Department of Materials Science and Engineering at Cornell have found more than 20 new self-assembled crystal structures, none of which had been observed previously.

The research, published in the journal ACS Nano under the title “Targeted Discovery of Low-Coordinated Crystal Structures via Tunable Particle Interactions,” is authored by Ph.D. student Hillary Pan and her advisor Julia Dshemuchadse, assistant professor of materials science and engineering.

“Essentially we were trying to figure out what kinds of new crystal structure configurations we can self-assemble in simulation,” Pan said. “The most exciting thing was that we found new structures that weren’t previously listed in any crystal structure database; these particles are actually assembling into something that nobody had ever seen before.”

The team conducted a targeted search for previously unknown low-coordinated assemblies within a vast parameter space spanned by particles interacting via isotropic pair potentials, the paper states. “Low-coordinated structures have anisotropic local environments, meaning that the geometries are highly directional, so it’s incredible that we’re able to see such a variety of these types of structures using purely non-directional interactions,” said Pan.

New insights on the risk of atrial fibrillation in children and adolescents

Image Credit: PublicDomainPictures

Researchers at Karolinska Institutet have investigated the relationship between premature birth and fetal growth and the risk of developing atrial fibrillation up to middle age. The study, published in JAMA Pediatrics, shows a slightly increased risk, especially in people who were born prematurely or who were large at birth. Low fetal growth was associated with an increased risk of atrial fibrillation only up to the age of 18.

For a few decades, the prevalence of atrial fibrillation at a young age has increased slightly, albeit from low levels.

"Atrial fibrillation at a young age can impose a heavy socio-economic burden on the individual, and more knowledge is needed about the underlying causes of the disease. Our findings can highlight the need to monitor and prevent the disease in more groups with an increased risk of cardiovascular disease", said the study's first author Fen Yang, doctoral student at Department of Global Public Health, Karolinska Institutet.

Vaccine printer could help vaccines reach more people

MIT researchers have designed a mobile vaccine printer that could be scaled up to produce hundreds of vaccine doses in a day. This kind of printer, which can fit on a tabletop, could be deployed anywhere vaccines are needed. Pictured is an artist’s interpretation of the printer.
Illustration Credit: Ryan Allen from Second Bay Studios
(CC BY-NC-ND 3.0)

Getting vaccines to people who need them isn’t always easy. Many vaccines require cold storage, making it difficult to ship them to remote areas that don’t have the necessary infrastructure.

MIT researchers have come up with a possible solution to this problem: a mobile vaccine printer that could be scaled up to produce hundreds of vaccine doses in a day. This kind of printer, which can fit on a tabletop, could be deployed anywhere vaccines are needed, the researchers say.

“We could someday have on-demand vaccine production,” says Ana Jaklenec, a research scientist at MIT’s Koch Institute for Integrative Cancer Research. “If, for example, there was an Ebola outbreak in a particular region, one could ship a few of these printers there and vaccinate the people in that location.”

The printer produces patches with hundreds of microneedles containing vaccine. The patch can be attached to the skin, allowing the vaccine to dissolve without the need for a traditional injection. Once printed, the vaccine patches can be stored for months at room temperature.

Effects of brain stimulation can be conditioned

Brain activity can be stimulated with transcranial magnetic stimulation.
Photo Credit: © RUB, Marquard

What worked with Pavlov's dog also works with an artificially induced change in nerve cell activity.

Researchers at the Ruhr University Bochum have succeeded in a special form of classic conditioning. In a group of 75 people, they showed that effects of transcranial magnetic stimulation, or TMS for short, can only be triggered by hearing a sound. Prof. Dr. Burkhard Pleger from the neurology of the Bergmannsheil University Hospital describes the results together with doctoral students Stefan Ewers and Timo Dreier as well as other colleagues in the journal Scientific Reports.

Magnetic stimulation causes the thumb muscle to contract

For the TMS, a magnetic coil is placed from the outside over a specific part of the brain. The strong magnetic field stimulates the underlying nerve cells to act. If you stimulate a certain area of the motor cortex in this way, the index finger or the thumb moves, for example. The Bochum team used the so-called paired pulse TMS stimulation for its work. Two TMS stimuli followed each other every twelve milliseconds, which leads to a stronger contraction of a muscle on the thumb than a TMS individual stimulation. In the conditioning phase, the researchers always combined these paired pulses TMS with a tone that the participants were presented via headphones parallel to the TMS stimulus.

Rare variants of an inflammation 'brake' gene may help reveal outcomes of kidney disease

Paradoxically, a gene variant that increases inflammation also has a protective effect on the kidneys. Seen here, kidney cells nuclei (blue) and an influx of immune regulatory cells (pink) that prevent damage in an injured kidney.
Photo Credit: Garvan Institute of Medical Research

A gene that controls inflammation could pave the way for more precise disease diagnostics and personalized treatments for kidney disease. 

The discovery of variants of an inflammation ‘brake’ gene brings scientists a step closer to personalized treatment for people at risk of kidney disease and kidney failure. 

Researchers at UNSW Sydney, the Garvan Institute of Medical Research, and Westmead Hospital, found that common genetic variants of TNFAIP3, which increase inflammation in the body, can paradoxically protect the kidneys from damage in the short term.  

“We wanted to investigate whether inherited differences in how people regulate inflammation could lead to better or worse kidney health outcomes,” says Professor Shane Grey, senior author of the paper and Head of the School of Biotechnology and Biological Sciences (BABS) at UNSW. 

The findings, published today in the journal Kidney International, could be used to help determine how well people will recover from kidney injury.  

“Our discovery that some genetic variants can be protective against inflammation could lead to a simple genetic test that helps predict the risk of kidney disease for patients,” says Prof. Grey.   

Study Finds Significant Variation in Anatomy of Human Guts

Photo Credit: Lauren Nichols.

New research finds there is significant variation in the anatomy of the human digestive system, with pronounced differences possible between healthy individuals. The finding has implications for understanding the role that the digestive tracts anatomy can play in affecting human health, as well as providing potential insights into medical diagnoses and the microbial ecosystem of the gut.

“There was research more than a century ago that found variability in the relative lengths of human intestines, but this area has largely been ignored since then,” says Amanda Hale, co-first author of the study and a Ph.D. candidate at North Carolina State University. “When we began exploring this issue, we were astonished at the extent of the variability we found.”

“If you’re talking to four different people, odds are good that all of them have different guts, in terms of the relative sizes of the organs that make up that system,” says Erin McKenney, corresponding author of the study and an assistant professor of applied ecology at NC State. “For example, the cecum is an organ that’s found at the nexus of the large and small intestine. One person may have a cecum that is only a few centimeters long, while another may have a cecum the size of a coin purse. And we found similar variability for many digestive organs.”

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