Articles tagged with Huntingtons Disease
Researchers have identified a genetic modifier associated with the rate of progression in Huntington's disease. The study used high-quality data from two cohorts and found a significant result linked to the MSH3 gene.
Scientists used CRISPR/Cas9 gene editing to reverse Huntington's disease pathology and motor symptoms in a mouse model. The treatment delivered enzymes to brain cells, reducing toxic protein aggregates and improving motor abilities.
A new blood test has been identified to predict the onset and track the progression of Huntington's disease. The test measures neurofilament levels in the blood, which increase throughout the course of the disease, even in carriers of the genetic mutation.
Researchers have discovered a molecular mechanism behind prion protein's role in neurodegenerative diseases, including Creutzfeldt-Jakob and Alzheimer's. The study found that copper biases the prion protein towards its 'off' state, which reduces toxic signals to nerve cells.
Researchers found that abnormal proteins in Alzheimer's, Parkinson's, and Huntington's diseases cause the same type of vesicle damage, potentially leading to effective treatments for multiple neurodegenerative diseases.
Researchers found that traffic jams in the nucleus kill brain cells in Huntington's disease. Drugs clearing up these disruptions restored normal transport and saved cells.
A new special collection in Disease Models & Mechanisms (DMM) explores the intersection of models and mechanisms to therapies for neurodegenerative disorders. The collection includes articles on induced pluripotent stem cell models, antisense oligonucleotide therapy for spinal muscular atrophy, and more.
A new study found a link between neurological birth defects in infants and several neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's. Researchers also identified a medicine that could treat these diseases by reducing misfolded proteins.
Researchers use computer simulations to show how N-terminal sequence encourages aggregation of huntingtin protein fragments while polyproline inhibits it. This discovery offers a new target for drug development to halt Huntington's disease progression. The study also highlights the involvement of the cytoskeleton in the disease mechanism.
Researchers at EPFL develop synthetic methods to introduce chemical modifications on huntingtin, reducing its toxicity and aggregation. The study reveals key findings on the relationship between post-translational modifications and huntingtin structure, function, and toxicity.
A study published in JCI reveals that mutant HTT protein and DISC1 form a complex that compromises its functions, leading to disruptions in downstream pathways. Normalizing the activity of this protein complex improves cognitive symptoms in HD mice, providing insights into DISC1's role in mental illness.
Researchers have identified early biomarkers of Huntington's disease in a five-year-old HD sheep, revealing metabolic changes prior to physical symptoms. These findings suggest that the disease affects important bodily processes before they become apparent, and could lead to the development of new treatments.
A study by Duke Health researchers has identified a shared root cause of Huntington's disease with Alzheimer's and other neurodegenerative diseases. The team found that a biochemical explanation for the breakdown of quality control processes in Huntington's disease, which can be restored by chemically inhibiting CK2, holds promise for ...
Astrocytes have long been linked to neurodegenerative diseases, but their roles were unknown. New research reveals that injured or diseased astrocytes can be toxic to neurons, causing cell death. However, they also play a crucial role in regeneration and connection formation.
The UNC Catalyst initiative aims to create and share research tools to study rare diseases, addressing the lack of resources and expertise in this area. The partnership with Genetic Alliance and Structural Genomics Consortium will provide researchers with access to necessary tools and talent to accelerate solutions.
Richard Myers is investigating the Cyclin G-associated kinase (GAK) gene and its role in Parkinson's disease. His research aims to understand how increasing GAK levels may prevent cell death in PD.
Researchers identified a link between Huntington's disease and dysfunction of the subthalamic nucleus, leading to progressive loss of nerve cells and debilitating symptoms. The study suggests that early problems in the subthalamic nucleus contribute to the development of the disease.
Experts have discovered a new genetic disease that causes neurodegeneration and accelerates brain cell death. The disease, ataxia oculomotor apraxia type XRCC1, is caused by a genetic mutation that disrupts DNA repair mechanisms.
Scientists discovered that expressing a single subunit of a chaperone complex can improve protein folding and extend lifespan. The study found that this approach mimics the proteostasis of human pluripotent stem cells and delays age-related diseases in a model organism.
A novel type of cell death, called ballooning cell death (BCD), has been identified in Huntington's disease. BCD is associated with mutant huntingtin and causes cells to expand like a balloon before rupturing.
Researchers found that the length of repeating polyglutamine sequences contained in proteins is critical to the onset of disease, with aggregation beginning only when chains reach 36 repeats. The study sheds light on how mutations and protein structure influence disease severity.
Researchers at the Centre for Genomic Regulation have identified a new pathway to therapy discovery for Huntington's disease. The study found that blocking the activity of messenger RNA (mRNA) is enough to revert alterations associated with the disease.
Researchers at Stanford University have identified several biological markers that can measure the progression of Huntington's disease in non-neural tissues. The team found that levels of mitochondrial DNA were elevated in plasma samples from patients with the disease, and P110 treatment corrected these levels.
A new measurement system, HDQLIFE, captures the effect of Huntington's disease on physical, mental and social health through patient-centered 'smart tests'. These tests allow clinicians to evaluate specific quality of life concerns for individuals with the disease.
Huntington's disease, a hereditary neurodegenerative disorder, is characterized by the loss of medium spiny neurons and motor control problems. A new award will support research to develop a stem cell-based therapy that swaps sick brain cells for healthy ones.
Researchers discovered a newly discovered stress response pathway that relies on fat molecules to mediate cellular health, reducing the risk of neurodegenerative diseases. The study found that certain types of fat may protect against brain disease by preventing protein aggregates.
Using an experimental co-culture method, researchers identified a protein subunit that reverses mutated gene effects in Huntington's disease. The study provides clues to potential new treatments and suggests that expression of the TRiC protein subunit may rescue atrophy of striatal neurons.
Scientists at Gladstone Institutes discovered that phosphorylation of the huntingtin protein prevents loss of critical brain cells and protected against behavioral symptoms in a mouse model of Huntington's disease. The study suggests a potential therapeutic target for treating the devastating neurodegenerative disorder.
A study published in PNAS reveals that cysteine deficiency contributes to oxidative stress and nerve cell damage in Huntington's disease. Cysteine levels affect the activity of ATF4, a protein involved in antioxidant defenses.
Transgenic Huntington's disease monkeys exhibit a range of symptoms, including motor problems, neurodegeneration, emotional dysregulation, and immune system changes. The study strengthens the use of HD monkeys as a model for evaluating emerging treatments before human clinical trials.
Researchers have developed a system to quickly screen millions of yeast cells for protein aggregates, offering new ways to explore their causes and potential therapies. The technology was used to study prions, Huntington's disease, and prion-switching, providing insights into the toxic effects of misfolded proteins.
A Phase 3 clinical trial found deutetrabenazine significantly decreased chorea in HD patients, with improvements also seen in quality of life measures. The drug was well-tolerated and effective in treating chorea associated with Huntington disease.
A new study found that deutetrabenazine significantly improved chorea control in adults with Huntington disease. The treatment also showed improvements in impression of change and physical functioning, but not on balance tests.
James F. Gusella, a renowned geneticist, will receive the William Allan Award for his substantial and far-reaching scientific contributions to human genetics and neurogenetics research. Dr. Gusella's work has mapped genes associated with neurological conditions such as Huntington disease, ALS, and Alzheimer disease.
Researchers found that about 1 in 400 people have 36 or more repeats of the gene, which could lead to a higher incidence of the disease. People with reduced penetrance may be at relatively low risk but play a larger role in transmitting the full penetrance gene to their children.
USC scientists have created a comprehensive map of the dorsal striatum, a part of the brain responsible for motor learning and coordination. The study identifies 29 distinct areas and hubs that coordinate complex limb movements, potentially leading to new treatments for autism and Huntington's disease.
Researchers at the University of Copenhagen have made significant breakthroughs in treating Huntington's disease by transplanting healthy glia cells into mice. The study shows that this method can prolong life expectancy and alleviate symptoms, offering hope for future treatment of neurological diseases.
By transplanting healthy human glia cells into mice with Huntington's disease, researchers were able to reduce symptoms and slow disease progression. The transplanted cells restored normal neuronal activity and rescued nerve cells at risk of death.
Researchers propose an out-of-control immune system as a common cause of neurodegenerative diseases, including Alzheimer's, Parkinson's, and Huntington's. The theory suggests that prolonged activation of the innate immune system leads to brain cell death, contributing to the decline in these diseases.
A lab-based study led by University of Leicester researchers has found a way to 'reverse' symptoms of neurodegenerative diseases like Parkinson's and Alzheimer's using genetic and pharmacological approaches. The study utilized fruit flies to explore the role of specific metabolites in the kynurenine pathway, which can help alleviate sy...
Researchers at University of California, Irvine, have found a way to reduce the aberrant accumulation of the mutant Huntingtin protein in Huntington's disease. By targeting and modulating levels of PIAS1, they showed improvement in symptoms and neuroinflammation in HD mice.
Researchers have developed a new model that allows them to monitor the molecular traffic inside a single cell. This is crucial for studying diseases like Alzheimer's, Parkinson's, and Huntington's, where faulty transport can be fatal.
Researchers found that deleting the huntingtin gene in adult mice does not lead to lethal consequences, offering hope for treatment strategies involving gene silencing. The study suggests that gene suppression or editing strategies may be safe for adults, but further research is needed to understand the long-term effects.
Researchers have pinpointed the effects of Huntington's disease on a specific brain area responsible for complex movements, such as talking or playing music. The study suggests that reintroducing normal patterns of activity in this area may be sufficient to restore normal behavior, offering potential therapeutic targets.
Rachel Harding, a University of Toronto researcher, is making her lab notes publicly available to accelerate research into Huntington's disease. By sharing raw data and detailed updates, she aims to speed up the process and encourage collaboration among scientists.
Researchers have identified an effective and safe treatment for Huntington's disease, using IONIS-HTTRx to inhibit huntingtin protein production. The drug has shown promising results in mice and monkeys, with motor skill improvements and reduced cortical huntingtin levels.
Researchers at Scripps Research Institute are investigating mechanisms contributing to Huntington's disease, a fatal inherited disorder affecting movement and brain function. The study aims to clarify the Rhes signaling pathway's role in mitochondrial energy production and identify potential drug targets.
The study reveals the core of protein clumps found in Huntington's brains has a distinctive structure, which may lead to new therapies. The findings provide crucial insights into how proteins undergo misfolding and aggregation, shedding light on neurodegenerative diseases.
Researchers at University of California, San Diego School of Medicine have discovered that the existing compound KD3010 offers hope for slowing Huntington's disease and its symptoms. The study found that KD3010 improved motor function, reduced neurodegeneration, and increased survival in a mouse model of HD.
UF Health researchers have discovered four novel proteins that contribute to Huntington's disease by accumulating in the brain and killing neurons. The proteins, known as RAN proteins, are made without a signal in the genetic code and build up as aggregated clusters that lead to cell death.
Researchers at University at Buffalo have discovered that the Huntingtin protein controls the movement of Rab proteins in neurons, which can lead to neurological problems if disrupted. The study sheds light on an enduring neuroscience mystery: the root causes of Huntington's disease.
Matthew D. Disney's innovative approach uses cells as reaction vessels to synthesize treatments within disease-affected cells, offering highly specific and precise therapies. This technology has potential applications in treating over 30 incurable diseases, including ALS, fragile X syndrome, and Huntington's disease.
Scientists have developed finches with a genetic mutation linked to Huntington's disease, enabling them to study the disorder's effects on speech. The transgenic birds display behavior disorders associated with the condition, providing valuable insights into its neurological basis.
Scientists at VIB and KU Leuven discovered polyglutamine repeats play a key role in functional development of cells. Excessive repeats cause neurodegenerative disorders, but moderate expansions may enable dynamic changes in cell physiology.
A large international study has identified genetic factors that modify the age of onset for Huntington's disease symptoms. The research, supported by the NIH, used precision medicine to analyze over 4,000 patients' DNA and found associations with genes involved in DNA repair and mitochondrial function.
A new test developed by UBC researchers allows physicians to measure the effects of gene silencing therapy in Huntington's disease. The test detects small amounts of toxic protein and can be used to follow changes in brain levels over time.
Scientists at EPFL have successfully distinguished between the disease-causing aggregation forms of proteins using step-by-step imaging. This breakthrough can help change pharmaceutical treatment of neurodegenerative diseases like Alzheimer's, Parkinson's, and Huntington's, which are caused by misfolded protein aggregates.
Researchers at Cedars-Sinai Medical Center have developed a new gene-editing technique involving low-dose irradiation, which is 10 times more effective than existing methods. This breakthrough could enable scientists to model human diseases more accurately and accelerate the discovery process.
Researchers developed a screening test to measure mutant huntingtin protein seeding in cerebrospinal fluid, distinguishing symptomatic Huntington's patients from gene carriers. This assay may accelerate the development of new drugs to treat this incurable disease by blocking cell-to-cell seeding.
A new tool has identified a novel anti-diabetes compound targeting ER stress, improving insulin production and glucose metabolism. The technology also shows promise in treating other diseases like retinitis pigmentosa, cystic fibrosis, and Alzheimer's.