Articles tagged with Neurodegenerative Diseases
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A team of researchers has identified 30 patients with previously undiagnosed conditions, linking them to rare mutations in the FLVCR1 gene. The study reveals a range of severe developmental disorders, including anemia and bone malformations, which share similarities with mice lacking the Flvcr1 gene and Diamond-Blackfan anemia.
A team of researchers at the University of California San Diego has identified a key pathway leading to neurodegeneration in early stages of ALS. The study suggests that targeting this pathway may prevent or slow disease progression, offering new hope for therapies.
The F.M. Kirby Research Center has driven critical breakthroughs in understanding the human brain in health and disease, aiding discoveries of effective diagnoses and interventions for various conditions.
Researchers develop transcranial ultrasound stimulation (TUS) as a non-invasive therapy for brain-related issues, with potential for personalized treatments. A 'search and rescue tool' for the brain, TUS enables precise targeting of specific areas before treatment.
Scientists have successfully imaged superspreader fibrils in the brain tissue of Alzheimer's patients, shedding light on their role in spreading the disease. The study, published in Science Advances, uses advanced imaging techniques to visualize the fibrils' formation and spread.
A new study in mice shows a unique mRNA delivery method can successfully edit faulty genes in fetal brain cells. The technology has the potential to stop progression of genetic-based neurodevelopmental conditions like Angelman syndrome and Rett syndrome before birth.
Researchers have unveiled a complex interplay between liver X and thyroid hormone receptors that regulates critical brain functions and protects against neurodegeneration. LXRs play a crucial role in regulating thyroid hormone function in the brain, while both receptors are essential for normal brain development and maintenance.
A new study has identified two neuron types in the brainstem that induce REM sleep, revealing a potential cause of Parkinson's disease. The discovery provides insight into the neural circuitry underlying REM sleep and its relationship to neurodegenerative diseases.
Mayo Clinic scientists created mini brain models in a dish that closely match key features seen in the brains of patients with Lewy body dementia. The team identified four potential drug compounds that may offer approaches to treating the disease.
Researchers at UC San Diego developed a fluorescent biosensor to observe PKC activity in real time and 3D space. The study revealed designated signaling territories where different types of PKC are active, shedding light on their critical role in human disease.
Researchers create Lewy bodies in living dopaminergic neurons using human stem cells and find that immune challenge is crucial for their formation. The study identifies a previously unknown link between the immune system and neurological disease, suggesting that genetic predisposition may not be necessary for Parkinson's development.
University of Rochester researchers have refined a noninvasive method called BL-OG that harnesses light to activate neurons in the brain. The technique has the potential to transform invasive procedures used to treat Parkinson's disease and other neurological conditions by providing a safer, less invasive alternative.
Researchers have developed a peptide inhibitor called RI-AG03 that effectively prevents Tau protein aggregation in lab and fruit fly studies. The breakthrough targets both major aggregation-promoting 'hotspots' of the Tau protein, potentially paving the way for more effective treatments for neurodegenerative diseases.
Researchers identify a homozygous SPAG9 gene mutation associated with intellectual disability, progressive cognitive decline, and heterogeneous brain abnormalities. The study provides a unique model for understanding disruptions in cellular transport mechanisms leading to neurodevelopmental and degenerative brain conditions.
Researchers have identified eight novel genetic mutations in patients with CSF1R-Related Disorder worldwide, highlighting the prevalence of the disease and paving the way for future individualized treatment. The discovery also suggests that genetic and environmental factors may influence the disease.
A Pitt study found that protein STING plays a protective role in cellular stress clearance and cell survival, increasing autophagy and lysosome production. The findings suggest targeting inflammation pathway downstream of STING may be a better approach to develop therapeutics for age-related diseases.
New research reveals that downregulating the enzyme EGLN2 can protect motor neurons and mitigate ALS symptoms in animal models. This discovery brings hope to understanding how to slow or prevent this devastating disease.
Researchers at the UAB Institut de Neurociències found that daily cannabidiol administration extends lifespan and improves symptoms in animal models of Leigh syndrome. CBD also improves cellular function, neuropathology, and breathing abnormalities, with a promising treatment option for this severe disease.
The study compares nerve fiber orientation captured with specialized MRI and OCT approaches, laying groundwork for combining these imaging techniques. The findings show strong potential for PS-OCT to validate dMRI data, providing valuable insights about the microstructural organization of nerve fibers.
Researchers have developed an integrated optical sensor capable of detecting dopamine directly from unprocessed blood samples. This breakthrough enables low-cost and efficient screening tools for various neurological conditions and cancers.
A new study reveals that more than half of strokes causing ataxia are located outside the cerebellum but affect a specific brain network. This discovery changes our understanding of ataxia's neural mechanisms and may lead to safer treatments for patients.
A study published in The EMBO Journal reveals that PQBP3 plays a crucial role in stabilizing the nuclear membrane, which is destabilized in senescent cells and contributes to neurodegenerative disorders. PQBP3's dysfunction may lead to the degradation of Lamin B1, a protein essential for maintaining the nuclear membrane.
A cross-sectional study of 170 former football players found a strong association between repeated head impacts and increased perivascular space volume, as well as worse cognitive test performance. The findings suggest that PVS volume may contribute to the link between RHI exposure and neurodegeneration.
Researchers have identified two proteins, PARP1 and histone H1.2, that interact with an ALS-causing mutant FUS protein, leading to pathological changes. Inhibiting these proteins may be a possible therapeutic target for familial ALS cases caused by mutations in the FUS gene.
Scientists at IOCB Prague have developed a new compound that suppresses appetite and protects the brain against Alzheimer's disease. The modified molecule, derived from the neuropeptide CART, is effective in reducing pathology associated with Alzheimer's.
Researchers discovered that Huntington's disease protein aggregates cause breaks in the nuclear envelope, leading to DNA damage and misregulation of neuronal genes. The study suggests a common mechanism for neurodegenerative diseases involving nuclear aggregate-induced ruptures.
Researchers explore the phenomenon of liquid-liquid phase separation (LLPS) in relation to cancer and neurodegenerative diseases. LLPS is characterized by the spontaneous formation of segregated liquid-phase regions within cells, which can lead to the formation of aggregates and dysregulation of signaling pathways.
The International Space Station National Laboratory is collaborating with NASA to fund up to $4 million in research addressing significant diseases like cancer, cardiovascular disease, and neurodegenerative disease. The joint solicitation aims to leverage microgravity to improve existing or develop new technologies for health problems ...
Researchers found that dopamine treatment increased neprilysin levels and reduced beta-amyloid plaques in mouse brains, improving memory function. Long-term L-DOPA treatment also showed improved cognitive performance in mice.
A University of Michigan-led study found that higher levels of metals in blood and urine are associated with a greater risk for ALS and shorter survival. Occupational exposure to metals was also linked to increased metal levels, emphasizing the need for accounting for environmental factors when evaluating overall exposure risk.
Researchers developed a new visual diagnostic technique called Cap-QuIC that can distinguish infected samples with the naked eye, enabling faster and more accurate disease detection. The method builds upon previous groundbreaking diagnostic techniques and leverages simple action to detect misfolded alpha-synuclein proteins.
Researchers developed a method to study aged neurons in the lab without a brain biopsy, revealing aspects of cells' genomes linked to late-onset Alzheimer's development. The technique suggests new treatment strategies targeting retrotransposable elements and early intervention to slow disease progression.
University of Utah researchers have developed a targeted therapy approach using alpha particles to break down harmful amyloid beta plaques, potentially slowing the devastating neurodegenerative disease. The treatment, called Targeted Alpha Therapy, delivers particles directly to the plaques while minimizing damage to healthy tissues.
A new study suggests that public health interventions, such as reformulating food products and introducing low emission zones, could yield significant cost savings and QALY gains in England. The interventions studied could save up to £4bn by reducing dementia rates and helping people live longer and healthier.
Researchers discovered elevated levels of neurofilament light chain protein in Parkinson's disease and dementia with Lewy bodies, suggesting potential early detection methods. The study found different protein patterns between the prodromal stage and established diseases.
Researchers used advanced imaging techniques to create detailed maps of mouse brains, identifying areas vulnerable to blood vessel degeneration. These changes can lead to cognitive decline and neurodegenerative disorders like Alzheimer's disease.
The PD GENEration study has found that 13% of participants have a genetic form of Parkinson's disease, significantly higher than previous estimates. The study, which reached its goal of 15,000 participants ahead of schedule, provides insights into the genetics of the disease and its potential for precision medicine.
Researchers found anomalies in embryonic development of individuals with spinal muscular atrophy (SMA), which could lead to new treatment options. These abnormalities were recreated in laboratory-grown tissue cultures called organoids, revealing key insights into the disease's progression.
Researchers from Tokyo Medical and Dental University demonstrate a proof of concept for antisense nucleic acid therapy to prevent the spread of α-synuclein pathologies in synucleinopathies. The treatment, involving antisense oligonucleotides, effectively reduces Lewy pathology-like neuronal inclusion by over 90%.
A new study reveals specific brain regions and cell types that are vulnerable to Alzheimer's disease, while others show resilience. Gene expression analysis and lab experiments highlight the role of Reelin in neuronal vulnerability and choline/antioxidants in sustaining cognition.
A study by Durham University found that retired rugby players with multiple concussions have higher levels of proteins linked to neurodegenerative diseases, such as Alzheimer's and motor neurone disease. The research suggests monitoring athletes' blood for these biomarkers may help diagnose early disease and prevent future development.
Researchers investigated the relationship between protein aggregation and liquid-liquid phase separation, finding that droplet formation may actually protect against aggregation. The study, led by Paul Scherrer Institute, used over 500 conditions to test the behavior of alpha-synuclein proteins.
A study by Sant Pau Research Institute identified a new mutation in the ARPP21 gene linked to amyotrophic lateral sclerosis (ALS) in 10 patients from 7 unrelated families. The finding suggests that ARPP21 is a novel ALS-causing gene with potential for personalized therapies and diagnosis.
Researchers discovered a new genetic cause of inherited Parkinson's disease, the CARS E795V mutation, which affects protein function and leads to neurological symptoms. The study found that this rare mutation is responsible for the condition in nine individuals from four families.
A new immune cell therapy has been shown to delay ALS onset and extend survival in mice, as well as reduce inflammation in an individual with the disease. In a phase I clinical trial, the therapy is now set to be tested on humans.
A new study published in Nature Communications found that smoking is a key lifestyle factor contributing to cognitive decline among older adults. Non-smokers who engaged in healthy behaviors such as regular exercise, moderate alcohol consumption, and social activity experienced significantly slower cognitive decline compared to smokers.
A Harvard study found that people who followed a healthy diet from their 40s onward were 43-84% more likely to be well-functioning physically and mentally at age 70 compared with those who did not. Adhering to diets rich in fruits, vegetables, whole grains, and healthy fats was associated with greater odds of healthy aging.
A study found that targeting heparan sulfate-modified proteins improves cell repair, rescues neuron loss and reverses cellular changes associated with neurodegenerative diseases. Disrupting these proteins promotes autophagy-dependent cell repair and reverses early cellular problems in models of Alzheimer's.
Biomolecular condensates exhibit unique material properties tied to protein sequences, including viscoelastic behavior and aging processes. The study quantifies interaction timescales, explaining how proteins within condensates arrange into fibrils over time.
Researchers develop a method that fuses AlphaFold's strengths with computer simulations based on physics laws to predict protein structures, enabling faster drug development. The approach filters down initial hypotheses to a more manageable set of structures, increasing the effectiveness of pharmaceuticals.
A groundbreaking clinical trial has shown that gene therapy can halt the progression of spastic paraplegia type 50 (SPG50) in a young boy. The treatment, delivered via spinal fluid, eliminated serious side effects and showed potential signs of improvement.
A team of researchers will study the effects of TBI on neurodegeneration to gain insight into ADRD development. They aim to uncover the underlying biological mechanisms and identify factors that increase the risk of ADRD.
Researchers from PSI and ETH Zurich studied connexin-36 gap junction channels and found that antimalarial drug mefloquine binds to the channels, potentially explaining its severe side effects. The study provides new insights into how drugs interact with connexins and may lead to the development of therapies for neurological diseases.
Researchers at Colorado State University used human stem cells to study synaptic connections in the brain, focusing on GABAergic synapses. They found that Gephyrin promotes autonomous assembly of these synapses, which can develop independently of neuronal communication. This understanding could lead to new treatments for neurological d...
A landmark clinical trial collaboration has reported significant improvements in neurobehavioral and functional outcomes for children with moderate to advanced stages of Sanfilippo syndrome. The study found anakinra, a recombinant interleukin-1 receptor antagonist, to be safe and effective in reducing disease symptoms.
A study by TUM researchers discovered four subtypes of Amyotrophic Lateral Sclerosis (ALS) with different molecular processes, including sex differences. The findings suggest repurposing an approved cancer drug targeting the MAPK pathway as a promising therapeutic approach for ALS.
Researchers found that men taking terazosin-type medications had about a 40% lower risk of developing dementia with Lewy bodies compared to those taking tamsulosin or 5-alpha reductase inhibitors. The study suggests that these drugs may have broad potential for treating neurodegenerative conditions.
Dorothee Dormann and Edward Lemke propose a new concept to measure the individual risk of getting age-related diseases by analyzing protein clumps in cells. This 'protein aggregation clock' could help diagnose age-related diseases at early stages or identify people at higher risk.
Researchers developed an AI-based screening tool that differentiates Alzheimer's disease and Lewy body disease by analyzing eye movement patterns. The tool provides a reliable method for identifying and distinguishing between the two dementia forms, which can aid in mitigating their impact on daily activities.
A new AI-driven tool can accurately diagnose Lewy body dementia by analyzing changes in vocal emotional expressions. The study found that individuals with Lewy body dementia exhibited more negative and calmer emotional expressions compared to those with Alzheimer's disease and healthy controls.