Breast Cancer Polygenic Risk Score Associated with Outcomes after In Situ Breast Disease

Photo Credit: National Cancer Institute

Studying a person’s genetic makeup can predict if they will go on to develop invasive breast cancer after abnormal cells have been found in their breast tissue.

For the first time, researchers at King’s College London have shown the connection between a person’s genetic risk score and their risk of developing the disease after irregular cells have been detected.

The research, published in Cancer Epidemiology, Biomarkers & Prevention and funded by Breast Cancer Now, included over 2,000 women in the UK who had been tested for 313 genetic changes, known as a genetic risk score.

These patients had already been diagnosed with either ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS) – the most common types of abnormal cells found in breast tissue.

A genetic risk score estimates a person's inherited likelihood of developing a disease or trait by combining the influence of multiple common genetic variants.

Converting toxic styrene oxide into attractive compounds

Selvapravin Kumaran, doctoral student in the Microbial Biotechnology working group, takes a measurement in the laboratory. 
Photo Credit: © Dirk Tischler

Styrene oxide isomerase is proving to be a multifunctional helper for biotechnology.

The bacterial membrane enzyme styrene oxide isomerase can convert toxic compounds into valuable materials. Selvapravin Kumaran, a doctoral student in Professor Dirk Tischler's Microbial Biotechnology working group at Ruhr University Bochum, Germany, has discovered exactly how it does this. These findings could help in the future to use the multifunctional enzyme in other reactions involving the production of industrially attractive compounds from inexpensive precursors. “Enzymes are a powerful tool that can make our lives more environmentally friendly,” says Dirk Tischler. The researchers report their findings in the journal ACS Catalysis.

An enzyme with a previously unexplored mechanism

Bacterial styrene oxidase isomerase has been known to science for over three decades, but its mechanism of action has not yet been elucidated. “Working with this enzyme is difficult because it is anchored in the membrane of the bacterial cell system,” says Dirk Tischler. In collaboration with Delft University of Technology, his team was able to uncover the role of the amino acid tyrosine in the conversion of toxic styrene oxide through the rare Meinwald rearrangement.

Fat particles could be key to treating metabolic brain disorders

For decades, it was widely accepted that neurons relied exclusively on glucose to fuel their functions in the brain. This is not the case.
Photo Credit: The University of Queensland

Evidence challenging the long-held assumption that neuronal function in the brain is solely powered by sugars has given researchers new hope of treating debilitating brain disorders.

A University of Queensland study led by Dr Merja Joensuu showed that neurons also use fats for fuel as they fire off the signals for human thought and movement.

“For decades, it was widely accepted that neurons relied exclusively on glucose to fuel their functions in the brain,” Dr Joensuu said.

“But our research shows fats are undoubtedly a crucial part of the neuron’s energy metabolism in the brain and could be a key to repairing and restoring function when it breaks down.”

Dr Joensuu from the Australian Institute for Bioengineering and Nanotechnology along with lab members PhD candidate Nyakuoy Yak and Dr Saber Abd Elkader from UQ’s Queensland Brain Institute set out to examine the relationship of a particular gene (DDHD2) to hereditary spastic paraplegia 54 (HSP54).

Potential new therapeutic target for asthma discovered

Photo Credit: Cnordic Nordic

A new way to treat asthma symptoms and even repair previously irreversible lung damage could be on the horizon following the discovery of a potential new therapeutic target by scientists at the Universities of Aberdeen and Manchester.

Current treatments for asthma largely involve controlling the inflammation of lung tissue using steroid inhalers. However, 4 people die every day in the UK from asthma related complications. With funding from the Medical Research Foundation and Asthma UK, a team of researchers from the University of Aberdeen and the University of Manchester have investigated the scarring that occurs in lung tissue as a result of asthma and have been able to reverse these changes in animal models.

Although still in the early stages of development, this discovery paves the way for a new way to treat not only asthma, but many different diseases in which similar structural changes in tissues occur. Such diseases include conditions like chronic obstructive pulmonary disease (COPD), chronic heart disease and cirrhosis of the liver and account for approximately 40% of deaths worldwide.

Asthma affects more than 7 million people in the UK and severe asthma can have a hugely detrimental impact on an individual’s quality of life. Even when treated, asthma can be fatal and the most recent data shows it contributed to 1,465 deaths in the UK in 20221 – this is despite the availability of new treatments which aim to dampen down inflammation in the lungs.

Scientists uncover room-temperature route to improved light-harvesting and emission devices

Dasom Kim
Photo Credit: Jorge Vidal/Rice University

Atoms in crystalline solids sometimes vibrate in unison, giving rise to emergent phenomena known as phonons. Because these collective vibrations set the pace for how heat and energy move through materials, they play a central role in devices that capture or emit light, like solar cells and LEDs.

A team of researchers from Rice University and collaborators have found a way to make two different phonons in thin films of lead halide perovskite interact with light so strongly that they merge into entirely new hybrid states of matter. The finding, reported in a study published in Nature Communications, could provide a powerful new lever for controlling how perovskite materials harvest and transport energy.

To get a specific light frequency in the terahertz range to interact with phonons in the halide perovskite crystals, the researchers fabricated nanoscale slots ⎯ each about a thousand times thinner than a sheet of cling wrap ⎯ into a thin layer of gold. The slots acted like tiny metallic traps for light, tuning its frequency to that of the phonons and thus giving rise to a strong form of interaction known as “ultrastrong coupling.”

Study first to show if nesting heat affects sea turtle hatchling ‘IQ’

A loggerhead hatchling goes through the Y-maze to test its learning abilities.
Photo Credit: Sarah Milton, Florida Atlantic University

As sand temperatures continue to rise, concerns about the future of sea turtles are growing. Hotter nests not only skew sex ratios – producing more females – but also reduce hatchling survival, slow growth, and increase the likelihood of physical deformities. Yet one important and often overlooked question remains: does this heat also affect cognitive ability – how well hatchlings can learn, adapt and respond to the rapidly changing world they face from the moment they emerge?

A new study by researchers at Florida Atlantic University’s Charles E. Schmidt College of Science offers a surprising glimmer of hope. They are the first to test whether incubation temperature affects cognitive ability in loggerhead (Caretta caretta) hatchlings – how well they can learn, adapt and problem-solve. While animal cognition has been widely studied in birds and mammals, much is yet to be discovered in reptiles.

Using a Y-maze and a visual discrimination task, the researchers trained hatchlings incubated at two female-producing temperatures (88 F and a hotter 91 F) and then tested their ability to “reverse train” when the task rules changed. Eggs were collected during the summers of 2019 and 2020 from nesting beaches in Palm Beach County.

Study finds altering one brain area could rid alcohol withdrawal symptoms

David Rossi, left, an associate professor in the Integrative Physiology and Neuroscience Department in WSU's College of Veterinary Medicine, poses for a photo with Nadia McLean, right, a PhD student in Neuroscience, outside their lab in Pullman. Rossi and McLean are researching ways to curb the debilitating symptoms of alcohol withdrawal
Photo Credit: Ted S. Warren, College of Veterinary Medicine

By targeting a specific area of the brain, researchers at Washington State University may now hold the key to curbing the debilitating symptoms of alcohol withdrawal that push many people back to drinking.

The new study found the answer to helping people get through alcohol withdrawal may lie in a region of the brain known as the cerebellum. In mice experiencing withdrawal, scientists were able to ease the physical and emotional symptoms by altering brain function in this brain region using both genetic tools and a specialized compound. The findings, published in the journal Neuropharmacology, could help pave the way for targeted therapies that make recovery more manageable.

“Our research suggests the cerebellum could be a promising therapeutic target to help people get through the most difficult stage of alcohol use disorder,” said Nadia McLean, lead author and doctoral researcher in the Department of Integrative Physiology (IPN). “By targeting the cerebellum, we were able to ease both the physical motor discoordination and the emotional distress of withdrawal — the symptoms that so often drive people back to drinking.”

Researchers develop functional eggs from human skin cells

Researchers at OHSU have demonstrated a new technique to treat infertility by turning skin cells into oocytes, or eggs. Shown here, an image of an oocyte with a bright image of a skin cell nucleus before fertilization.
Image Credit: Oregon Health & Science University

Researchers at Oregon Health & Science University have accomplished a unique proof of concept to treat infertility by turning skin cells into eggs capable of producing early human embryos.

The research published today in the journal Nature Communications.

The development offers a potential avenue for in vitro gametogenesis — the process of creating gametes — to treat infertility for women of advanced maternal age or those who are unable to produce viable eggs due to previous treatment of cancer or other causes.

Microbial DNA sequencing reveals nutrient pollution and climate change reinforce lake eutrophication

Lake 227 of the Experimental Lakes Area.
Photo Credit: Rebecca Garner

The algal blooms increasingly seen in Canadian lakes have been linked to both nutrient pollution from agricultural runoff and climate change. However, a new Concordia-led study using DNA sequencing of lakebed microbes reveals that these two drivers amplify each other in ways that profoundly affect the health of lake ecosystems.

Using records and samples from the International Institute for Sustainable Development Experimental Lakes Area (ELA), a group of 58 lakes in northwestern Ontario designated freshwater research facilities, the researchers paired environmental monitoring data dating back more than five decades with paleogenetic reconstructions from lakebed microbes dating back more than a century.

By sequencing DNA found in lake sediments, the researchers got insight into past algal communities’ composition and compare them to communities today. This provided critical insight into how those communities changed over decades.

“The sediment DNA archives gave us a chronology of these lakes’ history,” says lead author Rebecca Garner, PhD 2023, and currently a postdoctoral fellow at the University of California, Berkeley. “This is the first study to show that we can reconstruct the community dynamics of that ecosystem and dramatically expands the diversity of microorganisms that we were able to study.”

The study was published in the journal Environmental Microbiology.

Hidden genetic risk could delay diabetes diagnosis for Black and Asian men

 

Photo Credit: Barbara Olsen

A common but often undiagnosed genetic condition may be causing delays in type 2 diabetes diagnoses and increasing the risk of serious complications for thousands of Black and South Asian men in the UK – and potentially millions worldwide.

The new study is conducted by the University of Exeter, in collaboration with Queen Mary University of London (QMUL) and funded through a Wellcome Discovery Award. It has found around one in seven Black and one in 63 South Asian men in the UK carry a genetic variant known as G6PD deficiency. Men with G6PD deficiency are, on average, diagnosed with type 2 diabetes four years later than those without the gene variant. But despite this, fewer than one in 50 have been diagnosed with the condition

G6PD deficiency does not cause diabetes, but it makes the widely used HbA1c blood test – which diagnoses and monitors diabetes – appear artificially low. This can mislead doctors and patients, resulting in delayed diabetes diagnosis and treatment.