INFORMATION:
The research has been published in Cell Reports (DOI: 10.1016/j.celrep.2021.109338).
It was funded by the National Health and Medical Research Council (NHMRC), the Australian Research Council (ARC) and the Clem Jones Centre for Ageing Dementia Research.
Media: Erik de Wit, QBI Communications, e.dewit@uq.edu.au, +61 447 305 979
An astounding find reveals a rare cause of epilepsy
2021-07-08
(Press-News.org) Researchers at The University of Queensland, working to gain a better understanding of how brain cells work, have discovered the underlying mechanism of a rare genetic mutation that can cause epilepsy.
Dr Victor Anggono from UQ's Queensland Brain Institute said his team made the ground-breaking findings while researching nerve cell communications, which are an important process in normal brain function.
''We're both excited and astounded to make such an important contribution to the field of cellular and molecular neuroscience,'' Dr Anggono said.
He stressed that the mutation was extremely rare, with only one reported case in the world to date.
Dr Anggono's team studied protein structures, called receptors, that are attached to cell surfaces to make the discovery.
''It turns out that this particular mutation causes receptors in brain cells to behave differently, resulting in an imbalance in brain cell communication - and that can lead to disorders,'' he said.
''For example, cells that talk too much are associated with epilepsy and unwanted cell death - while cells that talk too little have negative impacts on learning and memory.
''There are also many examples of other mutations in the same gene that are known to be associated with epilepsy.
''What we know is that this receptor is critical for brain function and can lead to epilepsy when its function is misregulated.
''The findings point the way for further research to understand and potentially treat similar mutations.''
The imbalance in brain cell communications is also believed to be involved in neurological conditions including Alzheimer's disease and autism spectrum disorders.
Dr Anggono said the research provided a springboard for developing personalised medicines to target the mutation.
''Receptor blockers which have been approved by the US Food and Drug Administration (FDA), are already available for human treatment, but the challenge is to find the right ones and see how patients respond,'' he said.
ELSE PRESS RELEASES FROM THIS DATE:
A UOC team develops a neural network to identify tiger mosquitoes
2021-07-08
A study by researchers in the Scene understanding and artificial intelligence (SUNAI) research group, of the Universitat Oberta de Catalunya's (UOC) Faculty of Computer Science, Multimedia and Telecommunications, has developed a method that can learn to identify mosquitoes using a large number of images that volunteers took using mobile phones and uploaded to Mosquito Alert platform.
Citizen science to investigate and control disease-transmitting mosquitoes
As well as being annoying because of their bites, mosquitoes can be the carriers of pathogens. Rising temperatures worldwide are facilitating their spread. This is the case with the tiger ...
Zoo amphibians were on display while humans were locked away
2021-07-08
While the UK was in lockdown, certain species of captive amphibians became more visible, a new study suggests.
The COVID-19 pandemic forced the closure of zoos across the UK for several months from March 2020, with gradual re-openings from summer into autumn and winter.
These closures provided a team of researchers, from the University of Exeter and WWT Slimbridge Wetland Centre, a unique opportunity to study the effect of visitor presence on several species of amphibian at Slimbridge.
The project assessed the number of individuals of six species - common toad, common frog, smooth newt, pool frog, golden mantella and golden poison dart frog - visible to observers while their exhibit was closed, when it partially reopened to more staff and when it reopened to visitors.
"Amphibians ...
Potential marker for success of immunotherapy in the treatment of lung cancer
2021-07-08
Lung cancer has the highest mortality rate of all cancers, and treatment options are extremely limited, especially for patients with oncogenic mutations in the KRAS gene. A great deal of hope was invested in the licensing of immune checkpoint inhibitors, but the reality is that some patients respond very well to this treatment while it is completely ineffective in others. In a paper just published in Science Translational Medicine, a MedUni Vienna research group led by Herwig Moll (Center for Physiology and Pharmacology) identified a potential marker for the success of immunotherapy in lung cancer patients and explained the underlying molecular processes.
K-Ras it is a monomeric G protein that plays a key role in the growth of malignant ...
Researchers use JUWELS for record-breaking simulations of turbulence's smallest structures
2021-07-08
When you pour cream into a cup of coffee, the viscous liquid seems to lazily disperse throughout the cup. Take a mixing spoon or straw to the cup, though, and the cream and coffee seem to quickly and seamlessly combine into a lighter color and, at least for some, a more enjoyable beverage.
The science behind this relatively simple anecdote actually speaks to a larger truth about complex fluid dynamics and underpins many of the advancements made in transportation, power generation, and other technologies since the industrial era--the seemingly random chaotic motions known as turbulence play a vital role in chemical and industrial ...
2D:4D ratio is not related to sex-determined finger size differences in men and women
2021-07-08
The ratios between the lengths of the second and fourth fingers, known as the 2D:4D ratio, are different in males and females, which is often explained by levels of androgens and oestrogens. However, an alternative theory states that men have bigger body parts, including fingers, which impacts the 2D:4D ratio. A research team including HSE University scholars refuted this hypothesis by collecting data on finger length from 7,500 people. The results of the study were published in Scientific Reports. https://www.nature.com/articles/s41598-021-87394-6
The ...
Buried treasure: New study spotlights bias in leadership assessments of women
2021-07-08
A new study conducted before COVID-19 busted open the leaky pipeline for women in leadership underscores the bias that men are naturally presumed to have leadership potential and women are not and highlights the increased efforts needed by organizations to address the incorrect stereotype post-pandemic.
The research published in the journal Frontiers in Psychology highlights the continuing bias in leadership assessments of women, explores the contradictions between the perception and the reality of women's leadership, and shows why the slow rate of career advancement for women will likely continue at a snail's pace.
"The impact of the COVID-19 pandemic on women's career progression will likely be felt for years to come as ...
Protein crop's potential unlocked by deciphering anti-nutrient biosynthesis
2021-07-08
Faba beans are an excellent source of food protein, but about 4% of the world's population are afflicted by favism, which renders them sensitive to the faba bean anti-nutrients vicine and convicine. Now, an international research team has identified the VC1 gene as responsible for the production of these compounds.
Faba beans have actually been a source of food protein since pre-historic times, but a fraction of the population, mostly from warm southern regions, cannot tolerate them. Pythagoras and his followers avoided them, and Roman priests of Jupiter ...
Do I buy or not?
2021-07-08
You have probably often said to yourself: "This time, I will only buy what I need!" But then you still ended up coming home with things that were not on your shopping list.
How can you prevent such impulse buying? A team from the Chair of Psychology II at Julius-Maximilians-Universität (JMU) Würzburg in Bavaria, Germany, looked at this question. The answer is not that simple, says psychologist Dr Anand Krishna. It depends on what type of person you are: a pleasure-seeker or a person who focuses on security.
Anand Krishna and his JMU colleagues Sophia Ried and Marie Meixner have published ...
Hybrid enzyme catalysts synthesized by a de novo approach for expanding biocatalysis
2021-07-08
The two major challenges in industrial enzymatic catalysis are the limited number of chemical reaction types that are catalyzed by enzymes and the instability of enzymes under harsh conditions in industrial catalysis. Expanding enzyme catalysis to a larger substrate scope and greater variety of chemical reactions and tuning the microenvironment surrounding enzyme molecules to achieve high enzyme performance are urgently needed.
Recently, a research team led by Prof. Jun Ge from Tsinghua University, China reviewed their efforts using the de novo approach to synthesize hybrid enzyme catalysts that can address these two challenges and the structure-function relationship is discussed to reveal ...
Machine learning models based on thermal data predict solar radiation
2021-07-08
A research team at the University of Córdoba has developed and evaluated models for the prediction of solar radiation in nine locations in southern Spain and North Carolina (USA).
Measuring solar radiation is costly, as are all the tasks related to the maintenance and calibration of the most commonly used sensors: pyranometers and radiometers. The result is a paucity of reliable data. Hence, a research group from the University of Córdoba has developed and evaluated several Machine Learning models to predict solar radiation in nine locations (southern Spain and North Carolina, USA) spanning a range of different geo-climatic conditions ...