Diagnosis of rare, genetic muscle disease improved by new approach

Researchers at Washington University School of Medicine in St. Louis have developed an approach that could help doctors distinguish between the many subtypes of limb girdle muscular dystrophy, a rare, genetic muscle disease. With new therapies poised to enter the clinic, identifying the precise subtype is necessary to ensure that people get access to the treatment most likely to benefit them.
Image Credit: ANIRUDH

It’s not easy to distinguish between the dozens of subtypes of limb girdle muscular dystrophy — a rare, genetic muscle disease characterized by weakness in the hips and shoulders that causes difficulty walking and lifting the arms. Until now, determining the subtype has not been critical in caring for patients, because no specific treatments have been available. But gene therapies are on the horizon, and such therapies are targeted to specific genetic variants, so pinpointing the genetic roots of each patient’s disease has taken on a new importance.

In new research, a team at Washington University School of Medicine in St. Louis has developed an approach that could help doctors make more precise diagnoses. The study is published June 15 in The Journal of Clinical Investigation.

Hundreds of genes are associated with limb girdle muscular dystrophy. While genetic testing may identify a handful of rare genetic variants in each patient with the condition, there’s no way to know without painstaking, time-consuming additional experiments which, if any, of those variants is responsible for a patient’s symptoms. Unfortunately, no comprehensive catalog exists yet of all the variants of all the genes linked to limb girdle muscular dystrophy, and whether each of those variants can cause disease or is harmless.

Pharmacy researcher develops intervention for metabolic diseases like diabetes, stroke and heart disease

Photo Credit: Michal Jarmoluk

An investigator with the University of Kansas School of Pharmacy has filed an invention disclosure, part of a provisional patent application with the United States Patent and Trademark Office, for a treatment that could apply to heart disease, stroke and a host of other human diseases related to metabolism.

Liqin Zhao, KU associate professor of pharmacology & toxicology and investigator at the Life Span Institute2, has researched the human ApoE gene for years. A major focus of her work centers on how the ApoE2 variant — one of three major isoforms of ApoE gene — might protect people from Alzheimer’s disease3.

Now, based upon a discovery made during her Alzheimer’s-disease work, Zhao is patenting a way to leverage rhApoE2 to regulate blood lipids. Lipids, like fats and oils, are building materials of life at the cellular level that also are tied to heart disease and other metabolic diseases.

“In essence, we found that rhApoE2 significantly lowered blood levels of a number of ceramides,” Zhao said. “Moreover, rhApoE2 increased blood levels of a variety of ‘good triglycerides’ — triglycerides that contain health-promoting, long-chain polyunsaturated fatty acids such as alpha-linolenic acid, EPA and DHA, and lowered levels of ‘bad triglycerides,’ or triglycerides that contain saturated or monosaturated fatty acids that can impose a cardiovascular risk.”

Post-traumatic stress affects more than one in 10 cardiac device patients

Image Credit: Joshua Chehov

Nearly one-third of patients with an implanted device to prevent sudden death have anxiety in the first year, while depression affects one in five. That’s the finding of a study published this week in EP Europace, a journal of the European Society of Cardiology (ESC).

Lead author Professor Hannah Keage from the University of South Australia says implantable cardioverter defibrillators (ICDs) are effective at extending patients’ lives, “but we need to make sure that is a good quality life”.

“Rates of mood disorders in people with an ICD are much higher than in the general population, suggesting that psychological assessment and therapy should be integrated into the routine care of these patients,” Prof Keage says.

An ICD is recommended for people at high risk of a life-threatening heart rhythm and those who have had a cardiac arrest. Anxiety and depression are associated with a higher likelihood of premature death in patients with an ICD.

The study compiled the best available evidence to determine levels of depression, anxiety, and post-traumatic stress disorder (PTSD) in patients with an ICD.

The Egyptian vulture is a threatened bird of prey worldwide.

The Egyptian vulture is a threatened bird of prey worldwide.
Photo Credit: Conservation Biology Group, University of Barcelona

If urban landfills disappear under the new European regulation, some endangered birds such as the Egyptian vulture will need alternatives to their feeding patterns in order to survive in the future. This is one of the main conclusions of a study published in the journal Movement Ecology, led by Professor Joan Real, director of the UB Conservation Biology Group (EBC-UB) of the Faculty of Biology and the Biodiversity Research Institute (IRBio) of the University of Barcelona. The study includes the collaboration of teams from the Centre for Advanced Studies of Blanes (CEAB-CSIC) and the University of Seville.

The Egyptian vulture (Neophron percnopterus) is one of the smallest vultures and a threatened bird of prey worldwide, which is included in the International Union for the Conservation of Nature’s Red List as an Endangered Species. In the Iberian Peninsula, this species has been in regression for years, with the exception of some areas such as Catalonia, where there has been a progressive increase in its populations.

This Trans-Saharan migratory species spends the winter in Mali, Senegal and Mauritania and returns to the Iberian Peninsula during spring and summer to breed. It usually feeds on small carrion and dead animals found in the countryside, especially extensive livestock dead animals as well as wildlife. Therefore, it is an indicator species of the environmental status and it helps to eliminate organic remains from our ecosystems.

New insights on bacteria that causes food poisoning

The pathogenic genes of Providencia rustigianii can be transferred to Enterobacteriaceae as well.
   Illustration Credit: Shinji Yamasaki, Osaka Metropolitan University

Latest research reveals the properties of a type of food poisoning bacteria, and paves way for establishment of preventive methods.

The transfer of pathogenic genes between not only same bacterial species but also different species

Recently, Providencia spp. which have been detected in patients with gastroenteritis, and similar to enterohemorrhagic Escherichia coli. O157 and Salmonella spp., have been attracting attention as causative agents of food poisoning. For children with low immunity, food poisoning can be lethal as it causes severe symptoms such as diarrhea and dehydration, so clarifying the source of infection and pathogenic factors of Providencia spp., and establishing preventive methods are urgent issues worldwide.

Researchers created a new and improved way to view the mechanics of life

RESORT. A diagram to show the basic overview of the system. Firstly, the sample is labeled with the photoswitchable Raman probe. It’s then irradiated with two-color infrared laser pulses, ultraviolet light, and a special donut-shaped beam of visible light to constrain the area where Raman scattering can occur. As a result, the probe can be detected at a very precise point for high spatial resolution images.
Illustration Credit: ©2023 Ozeki et al.
(CC BY 2.0)

There are various ways to image biological samples on a microscopic level, and each has its own pros and cons. For the first time, a team of researchers, including those from the University of Tokyo, has combined aspects from two of the leading imaging techniques to craft a new method of imaging and analyzing biological samples. Its concept, known as RESORT, paves the way to observe living systems in unprecedented detail.

For as long as humanity has been able to manipulate glass, we have used optical devices to peer at the microscopic world in ever increasing detail. The more we can see, the more we can understand, hence the pressure to improve upon tools we use to explore the world around, and inside, us. Contemporary microscopic imaging techniques go far beyond what traditional microscopes can offer. Two leading technologies are super-resolution fluorescence imaging, which offers good spatial resolution, and vibrational imaging, which compromises spatial resolution but can use a broad range of colors to help label many kinds of constituents in cells.

Pregnancy hormone repairs myelin damage in MS mouse model

Photo Credit: Yassine Khalfalli

Treating a mouse model of multiple sclerosis with the pregnancy hormone estriol reversed the breakdown of myelin in the brain’s cortex, a key region affected in multiple sclerosis, according to a new UCLA Health study.

In multiple sclerosis, inflammation spurs the immune system to strip away the protective myelin coating around nerve fibers in the brain’s cortex, hampering electrical signals sent and received by the brain. Atrophy of the cortex in MS patients is associated with permanent worsening of disability, such as cognitive decline, visual impairment, weakness and sensory loss.

No currently available treatments for MS can repair damage to myelin. Instead, these treatments target inflammation to reduce symptom flare-ups and new nerve tissue scarring. Previous UCLA-led research found that estriol, a type of estrogen hormone produced in pregnancy, reduced brain atrophy and improved cognitive function in MS patients.

In the new study, researchers treated a mouse model of MS with estriol and found that it prevented brain atrophy and induced remyelination in the cortex, indicating that the treatment can repair damage caused by MS, rather than just slow the destruction of myelin.

Altered gut bacteria may be early sign of Alzheimer’s disease

 

Alzheimer’s disease causes changes to the brain that begin two decades or more before symptoms appear. A study by researchers at Washington University School of Medicine in St. Louis reveals that the bacteria that live in the gut also change before Alzheimer’s symptoms arise, a discovery that could lead to diagnostics or treatments for Alzheimer’s disease that target the gut microbiome.
Image Credit: Gerd Altmann

People in the earliest stage of Alzheimer’s disease — after brain changes have begun but before cognitive symptoms become apparent — harbor an assortment of bacteria in their intestines that differs from the gut bacteria of healthy people, according to a study by researchers at Washington University School of Medicine in St. Louis.

The findings, published June 14 in Science Translational Medicine, open up the possibility of analyzing the gut bacterial community to identify people at higher risk of developing dementia, and of designing microbiome-altering preventive treatments to stave off cognitive decline.

“We don’t yet know whether the gut is influencing the brain or the brain is influencing the gut, but this association is valuable to know in either case,” said co-corresponding author Gautam Dantas, PhD, the Conan Professor of Laboratory and Genomic Medicine. “It could be that the changes in the gut microbiome are just a readout of pathological changes in the brain. The other alternative is that the gut microbiome is contributing to Alzheimer’s disease, in which case altering the gut microbiome with probiotics or fecal transfers might help change the course of the disease.”

Illusions are in the eye, not the mind

The bar in the middle is all one grey level, but it appears lighter on the left and darker on the right due to the background.
Image Credit Jolyon Troscianko

Numerous visual illusions are caused by limits in the way our eyes and visual neurons work – rather than more complex psychological processes, new research shows.

Researchers examined illusions in which an object’s surroundings affect the way we see its color or pattern.

Scientists and philosophers have long debated whether these illusions are caused by neural processing in the eye and low-level visual centers in the brain, or involve higher-level mental processes such as context and prior knowledge.

In the new study Dr Jolyon Troscianko, from the University of Exeter, co-developed a model that suggests simple limits to neural responses – not deeper psychological processes – explain these illusions.

“Our eyes send messages to the brain by making neurons fire faster or slower,” said Dr Troscianko, from the Centre for Ecology and Conservation on Exeter’s Penryn Campus in Cornwall.  

Navigating underground with cosmic-ray muons

Navigating inside with muons. The red line in this image represents the path the “navigatee” walked, while the white line with dots shows the path recorded by MuWNS.
Illustration Credit: ©2023 Hiroyuki K.M. Tanaka

Superfast, subatomic-sized particles called muons have been used to wirelessly navigate underground in a reportedly world first. By using muon-detecting ground stations synchronized with an underground muon-detecting receiver, researchers at the University of Tokyo were able to calculate the receiver’s position in the basement of a six-story building. As GPS cannot penetrate rock or water, this new technology could be used in future search and rescue efforts, to monitor undersea volcanoes, and guide autonomous vehicles underground and underwater.

GPS, the global positioning system, is a well-established navigation tool and offers an extensive list of positive applications, from safer air travel to real-time location mapping. However, it has some limitations. GPS signals are weaker at higher latitudes and can be jammed or spoofed (where a counterfeit signal replaces an authentic one). Signals can also be reflected off surfaces like walls, interfered with by trees, and can’t pass through buildings, rock or water.