Gene discovered that can protect against severe muscle disease

The researchers behind the study. Front row from the left: Hanna Nord, Fatima Pedrosa Domellöf, Jingxia Liu. Rear row: Abraha Kahsay, Nils Dennhag, Jonas von Hofsten
Photo Credit: Per Stål

A specific gene may play a key role in new treatments that prevent muscle in the body from breaking down in serious muscle diseases. This is shown in a new study at Umeå University, Sweden. Protein expressed by the gene naturally prevents the muscles around the eye from being affected when other muscles in the body are affected by muscular dystrophies. In the study the gene is expressed in all muscles. The effects were that muscular dystrophy was alleviated throughout the body.

"You could say that the eye muscles function both as an eye-opener for understanding the disease and as a door opener to a treatment for the whole body," says Fatima Pedrosa Domellöf, professor of eye diseases at Umeå University and one of the study's authors.

Muscular dystrophies are a group of congenital genetic diseases that affect muscle tissue and often lead to severe disability and greatly reduced life expectancy. Despite intensive research, there are still no effective treatments for patients suffering from muscular dystrophy.

Earliest-yet Alzheimer’s biomarker found in mouse model could point to new targets

Illinois graduate student Yeeun Yook, left, and professor Nien-Pei Tsai worked with their team to find the earliest marker of Alzheimer’s disease yet reported in the brains of mice. The work could create new targets for early detection or treatment options.
Photo Credit: Fred Zwicky

A surge of a neural-specific protein in the brain is the earliest-yet biomarker for Alzheimer’s disease, report University of Illinois Urbana-Champaign researchers studying a mouse model of the disease. Furthermore, the increased protein activity leads to seizures associated with the earliest stages of neurodegeneration, and inhibiting the protein in the mice slowed the onset and progression of seizure activity. 

The neural-specific protein, PSD-95, could pose a new target for Alzheimer’s research, early diagnosis and treatment, said study leader Nien-Pei Tsai, an Illinois professor of molecular and integrative physiology. 

Tsai’s group studies mice that make more of the proteins that form amyloid-beta, which progressively aggregates in Alzheimer’s disease to form plaques in the brain that hamper neural activity. However, in the new work, the group focused on a time frame much earlier in the mouse lifespan than others have studied – when no other markers or abnormalities have been reported, Tsai said.

An evolutionary mystery 125 million years in the making

A bushel of tomatoes at the CSHL Uplands Farm.
Photo Credit: Courtesy of Cold Spring Harbor Laboratory

Plant genomics has come a long way since Cold Spring Harbor Laboratory (CSHL) helped sequence the first plant genome. But engineering the perfect crop is still, in many ways, a game of chance. Making the same DNA mutation in two different plants doesn’t always give us the crop traits we want. The question is why not? CSHL plant biologists just dug up a reason.

CSHL Professor and HHMI Investigator Zachary Lippman and his team discovered that tomato and Arabidopsis thaliana plants can use very different regulatory systems to control the same exact gene. Incredibly, they linked this behavior to extreme genetic makeovers that occurred over 125 million years of evolution.

Study of slowly evolving ‘living fossils’ reveals key genetic insights

The alligator gar, and other gar species, are “living fossils” that it shows little species diversity or physical differences from ancestors that lived tens of millions of years ago.
Photo Credit: David Solomon

In 1859, Charles Darwin coined the term “living fossils” to describe organisms that show little species diversity or physical differences from their ancestors in the fossil record. In a new study, Yale researchers provide the first evidence of a biological mechanism that explains how living fossils occur in nature.

The study, published in the journal Evolution, shows that gars — an ancient group of ray-finned fishes that fit the definition of a living fossil — have the slowest rate of molecular evolution among all jawed vertebrates, meaning their genome changes more slowly than those of other animals.

By linking this finding to the process of hybridization — when two different species produce viable offspring — of gar species in the wild that last shared common ancestry during the age of the dinosaurs, the researchers demonstrate that slow evolution rate of their genome drives their low species diversity.

“We show that gars’ slow rate of molecular evolution has stymied their rate of speciation,” said Thomas J. Near, professor of Ecology and Evolutionary Biology in Yale’s Faculty of Arts and Sciences and the paper’s senior author. “Fundamentally, this is the first instance where science is showing that a lineage, through an intrinsic aspect of its biology, fits the criteria of living fossils.” 

Low iron levels resulting from infection could be key trigger of long COVID

Photo Credit: Malachi Cowie

Problems with iron levels in the blood and the body’s ability to regulate this important nutrient as a result of SARS-CoV-2 infection could be a key trigger for long COVID, new research has discovered.

"Iron levels, and the way the body regulates iron, were disrupted early on during SARS-CoV-2 infection, and took a very long time to recover, particularly in those people who went on to report long COVID months later"

Aimee Hanson

The discovery not only points to possible ways to prevent or treat the condition, but could help explain why symptoms similar to those of long COVID are also commonly seen in a number of post-viral conditions and chronic inflammation.

Although estimates are highly variable, as many as three in 10 people infected with SARS-CoV-2 could go on to develop long COVID, with symptoms including fatigue, shortness of breath, muscle aches and problems with memory and concentration (‘brain fog’). An estimated 1.9 million people in the UK alone were experiencing self-reported long COVID as of March 2023, according to the Office of National Statistics.

Shortly after the start of the COVID-19 pandemic, researchers at the University of Cambridge began recruiting people who had tested positive for the virus for the COVID-19 cohort of the National Institute for Health and Care Research (NIHR) BioResource. These included asymptomatic healthcare staff identified via routine screening through patients admitted to Cambridge University Hospitals NHS Foundation Trust, and some to its intensive care unit.

Oregon State University researchers are first to see at-risk bat flying over open ocean

Hoary bat at sea.
Photo Credit: Courtesy of Will Kennerley / the MOSAIC Project.

On a research cruise focused on marine mammals and seabirds, Oregon State University scientists earned an unexpected bonus: The first-ever documented sighting of a hoary bat flying over the open ocean.

The bat was seen in the Humboldt Wind Energy Area about 30 miles off the northern California coast; the Humboldt area has been leased for potential offshore energy development, and the hoary bat is the species of bat most frequently found dead at wind power facilities on land.

OSU faculty research assistant Will Kennerley, the first to see the bat, and colleagues documented the sighting with a paper in the Journal of North American Bat Research. The bat was spotted just after 1 p.m. on Oct. 3, 2022, in observing conditions rated as excellent.

“I have spent a lot of time at sea in all oceans of the world, and I’ve seen a lot of amazing things,” said Lisa Ballance, director of OSU’s Marine Mammal Institute. “A hoary bat was a first for all of us. It’s a reminder of the wonder of nature, and of its vulnerability.”

Scientists develop novel RNA- or DNA-based substances to protect plants from viruses

The new active ingredients can be used to protect plants against viruses.
Photo Credit: Uni Halle / Markus Scholz

Individually tailored RNA or DNA-based molecules are able to reliably fight off viral infections in plants, according to a new study by the Martin Luther University Halle-Wittenberg (MLU), which was published in the International Journal of Molecular Sciences. The researchers were able to fend off a common virus using the new active substances in up to 90 per cent of cases. They also developed a method for finding substances tailored specifically to the virus. The team has now patented the method.

During a viral infection, the plant’s cells are hijacked by the virus to multiply itself. Key products of this process are viral RNA molecules that serve as blueprints for the production of proteins. "A virus cannot reproduce without producing its proteins," explains Professor Sven-Erik Behrens from the Institute of Biochemistry and Biotechnology at MLU. For years, his team has been working on ways to disrupt this process and degrade the viral RNA molecules inside the cells. 

In the new study, the researchers describe how this can be achieved using the so-called "antisense" method. It relies on short, synthetically produced DNA molecules known as antisense oligonucleotides (ASOs). In the plant cells, the ASOs direct cellular enzymes acting as scissors towards the foreign RNA so they can degrade it. "For this process to work, it is crucial to identify a suitable target structure in the viral RNA which the enzyme scissors can attach to," explains Behrens. However, finding those accessible sites is really tricky: most potential target RNA molecules have a very complex structure, and they are also masked by other cell components. "This makes it even more difficult to attack them directly," says Behrens. 

A step toward personalized immunotherapy for all

This immunofluorescence image shows CD4+ (green) and CD8+ (yellow) T cells in the microenvironment of a head and neck squamous cell carcinoma.
Image Credit: Allen Lab, NCI/NIH.

Most cancers are thought to evade the immune system. These cancers don’t carry very many mutations, and they aren’t infiltrated by cancer-fighting immune cells. Scientists call these cancers immunologically “cold.”

Now new research suggests such cancers aren’t as “cold” as once thought. Researchers from the La Jolla Institute for Immunology (LJI), UC San Diego Moores Cancer Center, and UC San Diego, have found that patients with “cold” tumors actually do make cancer-fighting T cells.

This discovery opens the door to developing vaccines or therapies to increase T cell numbers and treat many more types of cancer than currently thought possible.

“In virtually every patient we’ve looked at, with every kind of cancer we’ve analyzed, we can detect pre-existing natural immunity against their tumor’s immunogenic subset of mutations known as neoantigens,” says LJI Professor Stephen Schoenberger, Ph.D., who co-led the new study with LJI Professor Bjoern Peters, Ph.D. “Therefore, we think these patients may actually benefit from empowering this response through personalized immunotherapy.”

“Every cancer patient is different,” adds Peters. “But this research is an important step toward finding immune cell targets relevant for individual patient tumors.”

Pancreatic cancer lives on mucus

A cross-section of a mouse’s early-stage pancreatic tumor. CSHL scientists discovered that early pancreatic cancer cells depend on the regulators of mucus production to survive and grow. Green, purple, yellow, cyan, and white denote areas where mucus production is high.
Image Credit: Cold Spring Harbor Laboratory

Knowing exactly what’s inside a tumor can maximize our ability to fight cancer. But that knowledge doesn’t come easy. Tumors are clusters of constantly changing cancer cells. Some become common cancer variants. Others morph into deadlier, drug-resistant varieties. No one truly understands what governs this chaotic behavior.

Now, Cold Spring Harbor Laboratory (CSHL) Professor David Tuveson and his team have uncovered a mechanism involved in pancreatic cancer transformation—mucus. During the disease’s early stage, pancreatic cancer cells produce mucus. Additionally, these cells depend on the body’s regulators of mucus production. This new knowledge could help set the stage for future diagnostic or therapeutic strategies.

The unpredictable, shifting nature of tumors makes it challenging to pinpoint the right treatments for patients. “We need to better understand this concept of cell plasticity and design therapy that takes this into consideration,” says Claudia Tonelli, a research investigator in the Tuveson lab, who led the study.

Walleye struggle with changes to timing of spring thaw

Within a few days of ice-off, when a lakes’ frozen lid has melted away, walleye begin laying eggs and fertilizing them. When lakes thaw earlier than usual, the young walleye that hatch in Midwestern waters may have a more difficult time surviving.
Image Credit: Copilot AI

Walleye are one of the most sought-after species in freshwater sportfishing, a delicacy on Midwestern menus and a critically important part of the culture of many Indigenous communities. They are also struggling to survive in the warming waters of the Midwestern United States and Canada.

According to a new study published in the journal Limnology and Oceanography Letters, part of the problem is that walleye are creatures of habit, and the seasons — especially winter — are changing so fast that this iconic species of freshwater fish can’t keep up.

The timing of walleye spawning — when the fish mate and lay their eggs — has historically been tied to the thawing of frozen lakes each spring, says the study’s lead author, Martha Barta, a research technician at the University of Wisconsin–Madison. Now, due to our changing climate, walleye have been “unable to keep up with increasingly early and more variable ice-off dates,” Barta says.

Within a few days of ice-off, when a lakes’ frozen lid has melted away, walleye begin laying eggs and fertilizing them. In a normal year, that timing sets baby fish up for success once they hatch. But, Barta says, “climate change is interrupting the historical pairing of ice-off and walleye spawning, and that threatens the persistence of walleye populations across the Upper Midwest.”

Immune system meets cancer: Checkpoint identified to fight solid tumor

Immunofluorescence image of the expression of PHGDH (red) and CD3 T cells (green) in cryosectioned AE17 mesothelioma.
Image Credit: Zhengnan Cai

Checkpoint PHDGH in tumor-associated macrophages influences immune response and tumor growth

A study by a scientific team from the University of Vienna and the MedUni Vienna, recently published in the top-class journal Cellular & Molecular Immunology, has a promising result from tumor research: The enzyme phosphoglycerate dehydrogenase (PHDGH) acts as a metabolic checkpoint in the function of tumor-associated macrophages (TAMs) and thus on tumor growth. Targeting PHGDH to modulate the cancer-fighting immune system could be a new starting point in cancer treatment and improve the effectiveness of clinical immunotherapies.

Our immune system constantly fights emerging cancer cells that arise from mutations. This process is controlled, among other things, by different types of macrophages. Tumor-associated macrophages (TAMs) are among the most abundant immune cells in the tumor microenvironment. They come from tissue-resident immune cells circulating in the blood that penetrate the tumor and differentiate there in response to various messenger substances (cytokines) and growth factors. In most solid tumors, TAMs are paradoxically considered to be tumor-promoting ("protumorigenic") overall: they promote tumor growth and metastasis by suppressing the immune response, promoting the vascular supply to the tumor and also increasing resistance to drug therapies – i.e. they generally correlate with a poor prognosis for the affected patients. Previous attempts to influence TAMs proved unsatisfactory because many patients had only a limited response to these therapeutic approaches. This underlines the urgency of finding new active ingredients and strategies.

Gut-brain communication turned on its axis

How the gut communicates with the brain
Image Credit: Copilot AI

The mechanisms by which antidepressants and other emotion-focused medications work could be reconsidered due to an important new breakthrough in the understanding of how the gut communicates with the brain.

New research led by Flinders University has uncovered major developments in understanding how the gut communicates with the brain, which could have a profound impact on the make-up and use of medications such as antidepressants.

“The gut-brain axis consists of complex bidirectional neural communication pathway between the brain and the gut, which links emotional and cognitive centers of the brain,” says Professor Nick Spencer from the College of Medicine and Public Health.

“As part of the gut-brain axis, vagal sensory nerves relay a variety of signals from the gut to the brain that play an important role in mental health and wellbeing.

“The mechanisms by which vagal sensory nerve endings in the gut wall are activated has been a major mystery but remains of great interest to medical science and potential treatments for mental health and wellbeing.”

Human stem cells coaxed to mimic the very early central nervous system

Jianping Fu, Ph.D., Professor of Mechanical Engineering at the University of Michigan and the corresponding author of the paper being published at Nature discusses his team’s work in their lab with Jeyoon Bok, Ph.D. candidate at the Department of Mechanical Engineering.
Photo Credit: Marcin Szczepanski, Michigan Engineering

The first stem cell culture method that produces a full model of the early stages of the human central nervous system has been developed by a team of engineers and biologists at the University of Michigan, the Weizmann Institute of Science, and the University of Pennsylvania.

“Models like this will open doors for fundamental research to understand early development of the human central nervous system and how it could go wrong in different disorders,” said Jianping Fu, U-M professor of mechanical engineering and corresponding author of the study in Nature.

The system is an example of a 3D human organoid—stem cell cultures that reflect key structural and functional properties of human organ systems but are partial or otherwise imperfect copies.

“We try to understand not only the basic biology of human brain development, but also diseases—why we have brain-related diseases, their pathology, and how we can come up with effective strategies to treat them,” said Guo-Li Ming, who along with Hongjun Song, both Perelman Professors of Neuroscience at UPenn and co-authors of the study, developed protocols for growing and guiding the cells and characterized the structural and cellular characteristics of the model.

Vaping can increase susceptibility to infection by SARS-CoV-2

UC Riverside study urges e-cigarette users to be cautious about vaping in the era of COVID-19
Photo Credit: Karl Edwards

Vapers are susceptible to infection by SARS-CoV-2, the virus that spreads COVID-19 and continues to infect people around the world, a University of California, Riverside, study has found.

The liquid used in electronic cigarettes, called e-liquid, typically contains nicotine, propylene glycol, vegetable glycerin, and flavor chemicals. The researchers found propylene glycol/vegetable glycerin alone or along with nicotine enhanced COVID-19 infection through different mechanisms.  

The researchers also found that the addition of benzoic acid to e-liquids prevents the infection caused by propylene glycol, vegetable glycerin, and nicotine. 

“Users who vape aerosols produced from propylene glycol/vegetable glycerin alone or e-liquids with a neutral to basic pH are more likely to be infected by the virus, while users who vape aerosols made from e-liquids with benzoic acid — an acidic pH — will have the same viral susceptibility as individuals who do not vape,” said Rattapol Phandthong, a postdoctoral researcher in the Department of Molecular, Cell and Systems Biology and the research paper’s first author.

The researchers obtained airway stem cells from human donors to produce a 3D tissue model of human bronchial epithelium. They then exposed the tissues to JUUL and BLU electronic cigarette aerosols to study the effect on SARS-CoV-2 infection. They found all tissues showed an increase in the amount of ACE2, a host cell receptor for the SARS-CoV-2 virus. Further, TMPRSS2, an enzyme essential for the virus to infect cells, was found to show increased activity in tissues exposed to aerosols with nicotine.

Study sheds light on how neurotransmitter receptors transport calcium, a process linked with origins of neurological disease

Illustration Credit: Courtesy of McGill University

A new study from a team of McGill University and Vanderbilt University researchers is shedding light on our understanding of the molecular origins of some forms of autism and intellectual disability.

For the first time, researchers were able to successfully capture atomic resolution images of the fast-moving ionotropic glutamate receptor (iGluR) as it transports calcium. iGluRs and their ability to transport calcium are vitally important for many brain functions such as vision or other information coming from sensory organs. Calcium also brings about changes in the signaling capacity of iGluRs and nerve connections which are a key cellular events that lead to our ability to learn new skills and form memories.

iGluRs are also key players in brain development and their dysfunction through genetic mutations has been shown to give rise to some forms of autism and intellectual disability. However, basic questions about how iGluRs trigger biochemical changes in the brain’s physiology by transporting calcium have remained poorly understood.

In the study, the researchers took millions of snapshots of the iGluR protein in the act of transporting calcium, and unexpectedly discovered a temporary pocket that traps calcium on the outside of the protein. With this information at hand, they then used high-resolution electrophysiological recordings to watch the protein in motion as it transported calcium into the nerve cell.

Scientists assemble a richer picture of the plight and resilience of the foothill yellow-legged frog

Foothill yellow-legged frogs live in the flowing water of rivers and streams, so are especially vulnerable when these shrink to isolated pools.
Photo Credit: Brome McCreary / USGS

Up to only a few inches in length, with a lemon-hued belly, the foothill yellow-legged frog may seem unassuming. But its range once stretched from central Oregon to Baja California. In 2023, it was listed under the federal Endangered Species Act. Its rapidly decreasing range is due in part to a fungal pathogen called Batrachochytrium dendrobatidis, or Bd, that has devastated amphibians around the world.

A team of researchers, including UC Santa Barbara’s Andrea Adams, has conducted the most comprehensive study to date of disease dynamics in foothill yellow-legged frogs. The team’s data — sourced from both wild frogs and specimens in museum collections — enabled them to track patterns of infection across a large geographic range. In a study published in Royal Society Open Science, the researchers reveal that drought, rising temperatures and the increasing conversion of land for agriculture appear to be the largest factors driving Bd infection in this species.

The researchers aimed to assemble as much data as they could, both in space and time. They surveyed in the creeks and rivers of California and Oregon, where they swabbed wild yellow-legged frogs for the presence of Bd. It also led them into fluorescent-lit museum collections to sample specimens from as far back as the 1890s.

Vanishing Forests and Suffering Children: The Hidden Toll of Deforestation in Cambodia

Deforestation is suspected to have adverse impacts on child health. Investigating this phenomenon in Cambodia, a recent study sheds light on the devastating impact of prenatal exposure to deforestation on child health in Cambodia. The study reveals that children born in areas with recent deforestation suffer from lower birth weights and stunted growth. Moreover, pregnant women exposed to deforestation are more likely to experience anemia. These findings underscore the urgent need for effective targeted policies.

Deforestation, a critical consequence of human activity, has garnered significant attention due to its impact on environmental sustainability, biodiversity and climate change. However, an equally pressing yet less explored aspect is the relationship between deforestation and human health, especially in impoverished regions. Scientists have increasingly recognized the detrimental effects of deforestation on various aspects of human health, particularly among children. Studies reveal that children residing in areas with high deforestation rates are at an elevated risk of malaria, respiratory illnesses, diarrheal diseases, and malnutrition. This is particularly alarming given that these regions are often home to the most economically disadvantaged populations, worsening existing health disparities.

An increase in blood-sucking black flies is expected in Germany

Simulium ornatum is a black fly species of veterinary and human medical relevance.
Photo Credit: Dorian Dörge

Researchers from Goethe University Frankfurt and the Senckenberg Biodiversity and Climate Research Centre have modeled the spatial distributional patterns of black flies in Hesse, North Rhine-Westphalia, Rhineland-Palatinate and Saxony for the first time. In the study published in the renowned journal Science of the Total Environment, the research team shows that black flies in Germany can be categorized into three groups with different distribution patterns and ecological requirements. The researchers point out that medically relevant species in particular could become more prevalent as a result of ongoing climate and land-use change. 

Only six millimeters in length, black flies (Simuliidae) may look harmless like house flies, but their bites can be very unpleasant. Similar to mosquitoes, the females of these insects that are able to fly need a blood meal to produce eggs. Known as “pool feeders", they use their sharp “teeth" to scratch the skin of the host and then ingest the resulting drop of blood. “The anticoagulant and anesthetic substances introduced into the wound by mosquitoes can trigger serious allergic reactions or lead to secondary bacterial infections," states Prof. Dr. Sven Klimpel from the Senckenberg Biodiversity and Climate Research Centre, Goethe University Frankfurt, the LOEWE Centre for Translational Biodiversity Genomics (TBG), and the Fraunhofer IME Giessen. Klimpel continues: "Black flies are also vector-competent, meaning they are able to transmit pathogens that cause infectious diseases through their bites." One of the most well-known diseases transmitted by black flies is onchocerciasis, also known as “river blindness", caused by the nematode Onchocerca volvulus, which is native to Africa. According to the World Health Organization, more than 1.15 million people worldwide have already lost their sight as a result of the disease. 

Study shows orchid family emerged in northern hemisphere and thrived alongside dinosaurs

Phallaenopsis orchid in bloom
Photo Credit: John Wiesenfeld

Scientists at the Royal Botanic Gardens in Kew and the University of Portsmouth, along with partners in Latin America, Asia and Australia, have presented an updated family tree of orchids, tracing their origins to the northern hemisphere some 85 million years ago.

The study, published in leading journal New Phytologist, sheds new light on their complex and fascinating evolutionary history, and the authors hope their findings will help inform future orchid conservation planning. 

The orchid family, Orchidaceae, is often lauded by scientists as one of the greatest evolutionary marvels within the plant world. Not only are these flowering plants found on every continent except the Antarctic and in virtually every habitat, including north of the Arctic Circle, but they are also incredibly diverse, with an estimated 29,500 species – nearly three times more than the recognized number of bird species globally.  

It is generally accepted that orchids originated as far back as around 90 million years or more ago, but they were previously thought to have emerged on the supercontinent Gondwana, in what is present-day Australia.

However, the new study indicates their common ancestor may have originated in the northern hemisphere, on the supercontinent Laurasia, before spreading out further into the world.  

3D model: This is how the body’s building blocks are made

Using electron microscopy, scientists have managed to produce a 3D model of a part of the human cell, the ribosome, which is no more than 30 nanometers in diameter.
Graphic Credit: Eva Kummer

Human cells contain ribosomes, a complex machine that produces proteins for the rest of the body. Now the researchers have come closer to understanding how the ribosome works.

“It is amazing that we can visualize the atomic details of the ribosome. Because they are tiny – around 20-30 nanometers.”

So says Associate Professor Eva Kummer from the Novo Nordisk Foundation Center for Protein Research, who is responsible for the new study published in Nature Communications.

And don’t worry if you don’t know how much a nanometer is. It is around one billionth of a meter.

Using electron microscopy, Eva Kummer and her colleagues Giang Nguyen and Christina Ritter have managed to produce a 3D model of a part of the human cell, the ribosome, which is no more than 30 nanometers in diameter.

More specifically, they have taken snapshots of how a ribosome is made.

“It is important to understand how the ribosome is built and how it works, because it is the only cell particle that produces proteins in humans and all other living organisms. And without proteins, life would cease to exist,” says Eva Kummer.

Proteins are the primary building blocks of the human body. Your heart, lungs, brain and basically your whole body is made of proteins produced by the ribosome.

“From the outside, the human body looks pretty simple, but then consider the fact that every part of the body consists of millions of molecules, that are extremely complex, and that they all know what to do – that is pretty breathtaking,” says Eva Kummer.