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Category: biotech/medical – Page 113

The Role of Tau Pathology in Alzheimer’s Disease and Down Syndrome

Background: Individuals with Down syndrome (DS) exhibit an almost complete penetrance of Alzheimer’s disease (AD) pathology but are underrepresented in clinical trials for AD. The Tau protein is associated with microtubule function in the neuron and is crucial for normal axonal transport. In several different neurodegenerative disorders, Tau misfolding leads to hyper-phosphorylation of Tau (p-Tau), which may seed pathology to bystander cells and spread. This review is focused on current findings regarding p-Tau and its potential to seed pathology as a “prion-like” spreader. It also considers the consequences of p-Tau pathology leading to AD, particularly in individuals with Down syndrome. Methods: Scopus (SC) and PubMed (PM) were searched in English using keywords “tau AND seeding AND brain AND down syndrome”

Gene therapy shows promise in ARC syndrome, a deadly childhood liver disease

A new gene therapy has been used to successfully treat a deadly childhood liver disease in mice that model the disease, according to researchers at UCL and Great Ormond Street Hospital. Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a lethal genetic disorder usually caused by a lack of the VPS33B protein, with children diagnosed with the condition rarely living beyond their first year of life.

Now, in a study published in Nature Communications, the UCL-GOSH team found that by injecting a healthy version of the gene into the body, they can treat the condition in mice lacking VPS33B. Crucially, the final version of the treatment, which specifically targeted the liver cells, caused no harm. In the earlier versions, the genes became abnormally activated and caused cancerous cells to grow and expand in some cases.

While more tests must be done before the treatment can be tested in humans, the researchers’ breakthrough offers hope to babies with this devastating disorder and their families. In the UK, as many as six pregnancies per year might be affected by ARC syndrome. Furthermore, the findings may promote improved understanding of why some treatments may cause cancer.

Corrected microbial family tree offers statistically sound model for how earliest life forms evolved

In this era of Big Data, the prevailing wisdom is that more information leads to better answers. However, a new Canadian study shows that in the hunt for life’s ancient ancestors, more data can actually lead to less truth. Published in the Proceedings of the National Academy of Sciences, the research by UdeM associate professor of computer science Miklós Csűrös reveals that standard methods for reconstructing the genomes of ancient microbes are being overwhelmed by an explosion of information.

This paradox causes current models to “hallucinate” evolutionary events—specifically, an implausibly high number of horizontal gene transfers—that are actually just statistical ghosts, the study shows.

In it, Csűrös identifies a crisis point in evolutionary biology: As researchers try to reconcile thousands of gene sequences across the entire tree of life, the actual evolutionary signal begins to vanish, replaced by mathematical noise.

Trace additive unlocks faster bioplastic biodegradation without losing transparency or strength

Compostable plastics could be part of a solution to the world’s plastic waste problem. But currently these materials need industrial composting facilities to break down. In a step toward making a home-compostable plastic, researchers reporting in ACS Central Science have augmented polylactide (PLA)—a widely used biobased and compostable polymer—with a small amount of an additive. Tests show it helps the material degrade substantially faster without sacrificing critical qualities like strength or transparency.

“PLA can be made to degrade much more effectively under practical composting conditions without compromising the properties that make it useful in everyday applications,” says Marc Hillmyer, a corresponding author of the paper.

PLA is currently found in products such as food packaging, textiles and biomedical devices, and it accounts for roughly two-thirds of total bio-based and biodegradable plastics production worldwide. “Composting is considered one of the most effective end-of-life strategies for PLA products, especially food-contaminated single-use products, because it eliminates the need for additional sorting and washing processes,” says Hillmyer. This process converts organic waste into environmentally innocuous products such as small organic acids.

Before tangles kill neurons, tau-linked transport defects may be reversible

Neurons, specialized cells that transmit information across the nervous system, communicate with each other via projections known as axons. These microscopic, cable-like structures are also used to deliver proteins, signaling molecules and other cargo across different areas of the brain.

Past studies have found that this transfer of cargo, also known as axonal transport, is impaired in models of diseases known as tauopathies. Tauopathies include Alzheimer’s disease (AD), frontotemporal dementia and other neurodegenerative diseases associated with the pathological accumulation of a protein called tau inside neurons, which forms structures known as tau tangles.

Researchers at the UK Dementia Research Institute at University College London (UK DRI, UCL) and the UCL Queen Square Institute of Neurology recently carried out a study in mice aimed at investigating the link between tauopathies and axonal transport. Their findings, published in Nature Neuroscience, show that axonal transport defects prompted by the aggregation of pathological tau could be reversible, identifying a possible strategy for reversing this damage during the early stages of neurodegeneration.

Scientists Let People Play Video Games Using Only Their Thoughts

Researchers developed a brain-controlled gaming system that learns from the brain’s natural wiring, enabling fast BCI training and potentially transforming medicine, mental health, and human-computer interaction. It may not be long before video game controllers become optional. Researchers at

The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation

Nelson et al. present a detailed biomolecular study of how the APOE-R136S mutation protects against Alzheimer’s disease (AD) in mice and in patient-derived cells. Lots of data on glial contributions and transcriptomic changes. I see this as an excellent target for gene therapies aiming to combat AD. So do the folks at Lexeo Therapeutics (an exciting company you should check out!)

Nelson et al. report that the APOE-R136S mutation protects against APOE4-promoted Alzheimer’s disease pathologies, including phosphorylated Tau accumulation, neuroinflammation and neurodegeneration, in mouse and human neuron models.

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