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Genes

Unveiling the Secrets of Congenital Deafness: New Candidate Genes Revealed

New candidate genes which could be responsible for deafness have been identified.

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The world of congenital deafness has long been shrouded in mystery. A condition affecting approximately one in 1,000 babies born in the UK, it significantly impacts communication, social development, and overall quality of life. While genetic mutations are known to be a primary cause, many genes remain undiscovered. Now, a groundbreaking study led by King’s College London has shed light on new candidate genes that may hold the key to understanding and treating this condition.

Professor Andrea Streit, an expert in developmental neurobiology at King’s College London, highlighted the challenge of identifying specific genes associated with deafness: “Human genetics approaches have identified hundreds of ‘deafness loci’ – regions on chromosomes linked to deafness. The task is to pinpoint the gene responsible for deafness when mutated.”

The study focused on the protein Six1, previously linked to hearing loss, and its regulatory targets in ear progenitor cells from chick embryos. Using computer-based methods, the researchers predicted over 150 potential Six1 targets and selected four for further investigation. Notably, they discovered that Six1 binds to DNA regions controlling these gene expressions and that reducing Six1 levels halted their activation.

The team found that the vast majority of genes identified in chicks are also expressed in human ear progenitors. Moreover, a quarter of them fall into chromosome regions associated with deafness. This finding positions some of the regulated genes as top candidates for being causative genes of congenital hearing loss.

Professor Andrea Streit emphasized the significance of this discovery: “It was very exciting to find that some of the genes regulated by Six1 are located in regions deafness loci. This makes them priority candidates for being causative genes of congenital hearing loss.”

Furthermore, the researchers discovered that DNA regions controlling Six1 target gene expression are conserved across species from birds to humans. This finding suggests that fundamental biological processes, such as ear development, may be controlled by similar mechanisms in both birds and humans.

The team believes that further research into Six1 and its regulated genes could provide valuable insights into the molecular mechanisms governing normal ear development. As we continue to unravel the mysteries of congenital deafness, this study offers hope for developing effective treatments and improving the lives of individuals affected by this condition.

Diabetes

The Ancient Longevity Switch: How Morning Coffee Could Be Slowing Down Your Ageing Process

Caffeine appears to do more than perk you up—it activates AMPK, a key cellular fuel sensor that helps cells cope with stress and energy shortages. This could explain why coffee is linked to better health and longer life.

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The scientific community has made another groundbreaking discovery that reveals how our beloved morning coffee might be doing more than just waking us up. A recent study conducted by researchers at Queen Mary University of London’s Cenfre for Molecular Cell Biology sheds light on the potential anti-ageing properties of caffeine, the world’s most popular neuroactive compound.

The research, published in the journal Microbial Cell, delves into the intricate mechanisms within our cells and how they respond to stress and nutrient availability. The scientists used a single-celled organism called fission yeast as a model to understand how caffeine affects ageing at a cellular level.

One of the key findings was that caffeine doesn’t act directly on the growth regulator called TOR (Target of Rapamycin), which is responsible for controlling energy and stress responses in living things for over 500 million years. Instead, it works by activating another crucial system called AMPK, a cellular fuel gauge that is evolutionarily conserved in yeast and humans.

“When your cells are low on energy, AMPK kicks in to help them cope,” explains Dr Charalampos (Babis) Rallis, Reader in Genetics, Genomics, and Fundamental Cell Biology at Queen Mary University of London, the study’s senior author. “And our results show that caffeine helps flip that switch.”

The implications of this discovery are significant, as AMPK is also the target of metformin, a common diabetes drug being studied for its potential to extend human lifespan together with rapamycin. The researchers demonstrated using their yeast model that caffeine’s effect on AMPK influences how cells grow, repair their DNA, and respond to stress – all of which are tied to ageing and disease.

These findings open up exciting possibilities for future research into how we might trigger these effects more directly – with diet, lifestyle, or new medicines. So, the next time you reach for your coffee, remember that it might be doing more than just boosting your focus – it could also be giving your cells a helping hand in slowing down your ageing process.

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Disability

Unlocking Skin Renewal: Vitamin C Activates “Youth Genes” to Reverse Age-Related Thinning

Japanese researchers have found that vitamin C can thicken skin by switching on genes that boost skin cell growth, helping reverse age-related thinning. It works by reactivating DNA through a process that lets cells regenerate more effectively—potentially a game-changer for aging skin.

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The skin serves as our body’s first line of defense against external threats. As we age, however, the epidermis – the outermost layer of skin – gradually becomes thinner and loses its protective strength. Research has long emphasized the benefits of vitamin C (VC) in maintaining skin health and promoting antioxidant properties.

Recently, a team of researchers in Japan made an exciting discovery: VC helps thicken the skin by directly activating genes that control skin cell growth and development. Their findings, published online in the Journal of Investigative Dermatology, suggest that VC may restore skin function by reactivating genes essential for epidermal renewal.

Led by Dr. Akihito Ishigami, Vice President of the Division of Biology and Medical Sciences at Tokyo Metropolitan Institute for Geriatrics and Gerontology, the study used human epidermal equivalents – laboratory-grown models that closely mimic real human skin. In this model, skin cells are exposed to air on the surface while being nourished from underneath by a liquid nutrient medium.

The researchers applied VC at concentrations comparable to those typically transported from the bloodstream into the epidermis and found that VC-treated skin showed a thicker epidermal cell layer without significantly affecting the stratum corneum (the outer layer composed of dead cells) on day seven. By day 14, the inner layer was even thicker, and the outer layer was found to be thinner, suggesting that VC promotes the formation and division of keratinocytes.

Importantly, the study revealed that VC helps skin cells grow by reactivating genes associated with cell proliferation. This process occurs through DNA demethylation – a process in which methyl groups are removed from DNA, allowing for gene expression and promoting cell growth.

The researchers further identified over 10,138 hypomethylated differentially methylated regions in VC-treated skin and observed a 1.6- to 75.2-fold increase in the expression of 12 key proliferation-related genes. When a TET enzyme inhibitor was applied, these effects were reversed, confirming that VC functions through TET-mediated DNA demethylation.

These findings reveal how VC promotes skin renewal by triggering genetic pathways involved in growth and repair. This suggests that VC may be particularly helpful for older adults or those with damaged or thinning skin, boosting the skin’s natural capacity to regenerate and strengthen itself.

“We found that VC helps thicken the skin by encouraging keratinocyte proliferation through DNA demethylation, making it a promising treatment for thinning skin, especially in older adults,” concludes Dr. Ishigami.

This study was supported by grants from the Japan Society for the Promotion of Science (JSPS) KAKENHI: grant number 19K05902.

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Biochemistry

Unveiling Molecular Motion: A Breakthrough in Synthetic Biology and Soft Matter Physics

Scientists have uncovered a previously unknown type of molecular motion inside DNA-based droplets: instead of spreading randomly, guest molecules advance in an organized wave. This surprising discovery opens the door to understanding how cells might organize internal processes without membranes. Using customizable DNA condensates as experimental models, the team showed how molecular waves emerge through precise DNA interactions. These insights could not only transform our grasp of cellular signaling but may even lay groundwork for treating neurodegenerative diseases by influencing how molecules behave inside aging cells.

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Here’s the rewritten article:

In a groundbreaking discovery, researchers from Johannes Gutenberg University Mainz, the Max Planck Institute for Polymer Research, and the University of Texas at Austin have uncovered a form of molecular motion that defies conventional understanding. When guest molecules penetrate droplets of DNA polymers, they don’t diffuse haphazardly; instead, they propagate through them in a clearly-defined frontal wave.

“This is an effect we didn’t expect at all,” says Weixiang Chen, a leading researcher from the Department of Chemistry at JGU. The findings have been published in Nature Nanotechnology, and the implications are significant.

In contrast to traditional diffusion models, where molecules spread out randomly, the observed behavior of guest molecules in DNA droplets is structured and controlled. This takes the form of a wave of molecules or a mobile boundary, as explained by Professor Andreas Walther from JGU’s Department of Chemistry, who led the research project.

The researchers used thousands of individual strands of DNA to create droplets, known as biomolecular condensates. These structures can be precisely determined and have counterparts in biological cells, which employ similar condensates to arrange complex biochemical processes without membranes.

“Our synthetic droplets represent an excellent model system for simulating natural processes and improving our understanding of them,” emphasizes Chen.

The intriguing motion of guest molecules is attributed to the way that added DNA and the DNA present in the droplets combine on the basis of the key-and-lock principle. This results in swollen, dynamic states developing locally, driven by chemical binding, material conversion, and programmable DNA interactions.

The findings are not only fundamental to our understanding of soft matter physics but also relevant to improving our knowledge of cellular processes. “This might be one of the missing pieces of the puzzle that, once assembled, will reveal to us how cells regulate signals and organize processes on the molecular level,” states Walther.

This new insight could contribute to the treatment of neurodegenerative disorders, where proteins migrate from cell nuclei into the cytoplasm, forming condensates. As these age, they transform from a dynamic to a more stable state and build problematic fibrils. “It is quite conceivable that we may be able to find a way of influencing these aging processes with the aid of our new insights,” concludes Walther.

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