Articles tagged with Huntingtons Disease
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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.
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.
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.
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 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.
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.
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 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.
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.
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.
Scientists from Scripps Research Institute have established conclusively that an activating protein called Rhes plays a pivotal role in focusing toxicity of Huntington's in the striatum. Deleting Rhes significantly reduces behavioral problems in animal models of the disease.
Researchers will investigate mTOR's role in brain function and regulation using various techniques. Understanding its function in the striatum could lead to new therapies for neurodegenerative diseases.
A new transgenic nonhuman primate model of Huntington's disease has been developed, showing similarity to humans in progressive neurodegeneration and motor control decline. The study reveals cognitive and motor impairments emerging at 16 months of age, and dystonia and signs of neurodegeneration on brain imaging at 24 months.
Researchers identified a gene variant outside the huntingtin gene that affects disease onset timing. The variant delays symptoms when on the normal protein copy, while accelerating them on the mutated protein copy.
A closer look at the DNA surrounding the Huntington's disease (HD) gene reveals critical regions controlling its expression. Changes in these regions can delay or accelerate the disease, with some individuals receiving protection from the mutant gene.
A team of scientists discovered CRMP1, a protein that acts as a 'chaperone' to prevent misfolding of the toxic huntingtin protein. In healthy brains and tissues, CRMP1 is present in higher amounts than in those affected by Huntington's disease.
A novel computational strategy identified CRMP1 as a factor that suppresses misfolding and aggregation of the huntingtin protein in Huntington's disease. CRMP1 overexpression reduces huntingtin aggregation and toxicity, while reduced levels increase toxicity.
Researchers have identified significant vascular changes in Huntington's disease brains, finding mutant huntingtin in blood vessels and increased permeability of the blood-brain-barrier. These findings suggest that healthy cells can be infected by the mutant protein, offering new potential therapeutic targets.
A team of researchers from Plymouth University is studying a protein called Bim, which causes cell death in the brain and regulates autophagy and apoptosis. They aim to understand how Bim levels increase in Huntington's disease and test the effectiveness of a Bim-derived peptide in treating the disease.
A new ultra-sensitive test can detect mutant huntingtin protein in the cerebrospinal fluid of HD patients, predicting disease severity. The test has the potential to guide clinical decisions and monitor treatment efficacy.
Researchers are developing a biologically plausible model of the whole system to predict outcomes of future experiments and provide more information about the brain's ability to learn new motor movements. The goal is to understand how people execute, control and learn movements to lead to new treatments for Huntington's disease.
Researchers at Boston University School of Medicine identified a specific genetic signal, miR-10b-5p, that strongly correlates with disease severity and extent of neuronal death in Huntington's disease. This discovery may provide a faster and more effective way to determine the effectiveness of treatments.
Researchers at Scripps Research Institute have identified a crucial pathway that shields cells against death caused by environmental stress. The study found that Rheb inhibits protein synthesis by amplifying the phosphorylation of eIF2α, conserving cell resources during challenging conditions.
Researchers from Inserm confirm triheptanoin's efficacy in treating Huntington's disease by restoring normal brain energy metabolism. A pilot clinical trial with ten patients showed significant improvements, paving the way for a larger-scale trial.