Articles tagged with Neurodegenerative Diseases
The Wellcome Trust has announced its first Pathfinder Awards to support research into rare and orphan diseases, including Neurodegeneration with Brain Iron Accumulation (NBIA) and Homocystinuria. The awards aim to facilitate collaboration between academia and industry to develop innovative treatments for these debilitating conditions.
Dr. Patricia Dickson's research aims to develop a stem cell-based therapy for mucopolysaccharidosis I, a fatal pediatric disease causing neurodegeneration. The project seeks to address critical issues in the development of therapeutic candidates.
Research by IRB Barcelona scientists reveals that glycogen accumulation in neurons is toxic, causing brain damage and reducing lifespan in both flies and mice. This finding has significant implications for understanding Lafora progressive myoclonic epilepsy and other neurodegenerative diseases.
A study discovered mutations in the mitochondrial methionyl-tRNA synthetase gene that cause neurodegenerative disorders in both fruit flies and humans. The findings suggest that antioxidants may counteract the negative consequences of these mutations in flies, raising hope for potential therapeutic approaches in human patients.
A study found that blocking a protein called AMPK helps increase animal mobility and reduce nerve cell death in animal models of amyotrophic lateral sclerosis (ALS). The findings suggest energy deficits may contribute to neurodegenerative disorders like ALS, offering new directions for treatment.
A team of researchers has associated mutations in the reticulon 2 gene with hereditary spastic paraplegia type 12. They discovered that these mutations likely cause neurodegeneration by disrupting ER-shaping proteins, providing new insights into this complex disorder.
A study published in Neuron reveals that upper and lower white matter fiber pathways play distinct roles in language processing. Patients with damage to the lower pathway struggle with lexical semantics but excel at constructing sentences, while those with damage to the upper pathway have difficulties with syntactic processing.
Researchers have discovered that a mutation in the CLN3 gene disrupts protein trafficking, leading to lysosome overflow and neuronal death in Batten disease. The findings may form the basis for a new therapy by targeting the kinase function of CLN3.
A new human genetic mutation, C9ORF72 repeat expansion, is identified as the most common cause of ALS and frontotemporal dementia. This mutation explains at least a third of all familial cases in Europeans and nearly half of all cases in Finland.
Researchers have pinpointed a new genetic segment on chromosome 9 as the cause of familial motor neuron disease, with affected patients carrying hundreds of DNA repeats that disrupt multiple mechanisms in motor nerve cells. This discovery may lead to new blood tests for early detection and treatment avenues.
Researchers at the University of Illinois have developed a new set of building blocks for simple synthesis of complex molecules. They successfully synthesized synechoxanthin, an antioxidant molecule, using their iterative cross-coupling method, which enables the creation of a whole new class of building blocks.
Researchers at Institut de recherches cliniques de Montréal have identified a key molecule directing axons during neural circuit formation. VEGF plays a crucial role in attracting nervous system axons, offering potential for therapies to re-grow axons after spinal cord injuries.
The study identifies thousands of sites of DNA methylation in a large set of physiological and pathological tissues, providing insight into human body processes and disease. The research may lead to finding the unknown origin of metastasis and developing more effective therapies.
A study published in Archives of Otolaryngology – Head & Neck Surgery found that patients with a reduced ability to smell or detect odors seem to adapt to their condition. They report fewer olfactory-triggered emotions and memories, using their sense of smell less in daily life.
A team at UCSF has identified the right hemisphere's pregenual anterior cingulate cortex as crucial for embarrassment. The study found that people with neurological damage in this region responded less emotionally to criticism, suggesting a potential diagnostic tool for neurodegenerative diseases.
A new study has uncovered the role of Sortilin in regulating Progranulin levels in neurons, which may hold promise for treating frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The research found that Sortilin-mediated PGRN endocytosis is a key pathway underlying FTLD-TDP pathophysiology.
The OHSU Doernbecher team is conducting a second phase of a landmark clinical trial to assess the safety and preliminary effectiveness of purified human neural stem cells as a potential treatment for infantile or late-infantile neuronal ceroid lipofuscinosis, a rare and currently fatal neurodegenerative disorder. The trial aims to eval...
The study identified mutations in the ataxin 2 gene as a genetic contributor to ALS, with expansions of glutamine in ataxin 2 linked to an increased risk for the disease. The findings may aid in the development of biomarkers and new therapies for ALS.
Researchers have created a genetically modified fruit fly that mimics key features of Charcot-Marie-Tooth disease, a neurodegenerative disorder. The study may reveal new information on how the disease develops in humans and provide a tool for discovering potential new drugs.
Resveratrol shows therapeutic potential in preventing age-related disorders, including neurodegenerative diseases, inflammation, diabetes, and cardiovascular disease. Low doses improve cell survival, while high doses increase cell death.
Researchers have identified a crucial molecular pathway required for the formation of brain neural circuits. This breakthrough has significant implications for understanding how axons reach their targets, paving the way for new therapies to treat spinal cord injuries, neurodevelopmental disorders, and neurodegenerative diseases.
A study by Berman et al. reveals that mitochondrial size and shape are regulated by fusion, fission, growth, and degradation processes. The researchers found that a protein called Bcl-xL manages the number, size, and energy-producing capacity of mitochondria.
A new study reveals that molecular motors in cells operate in a highly coordinated manner to move internal cargo and transport organelles. The findings provide insight into the mechanisms that instruct motor movement, potentially leading to therapies for neurodegenerative disorders such as ALS and Usher syndrome.
Researchers at UT Southwestern Medical Center identified a compound that liberates cholesterol trapped in cells, shedding light on its transport and suggesting a possible therapeutic target for NP-C disease. The findings show improved liver function and decreased neurodegeneration in mice treated with the compound.
Patients with pediatric-onset multiple sclerosis tend to have a higher yearly rate of relapses compared to those diagnosed in adulthood. This discrepancy may suggest greater plasticity and potentially more repair and remyelination in the younger nervous system.
Researchers have discovered a possible therapy for mucolipidosis type IV (ML4), a disease causing nerve cell death and progressive motor function loss in children. Introducing normal blood cells into genetically modified fruit flies with ML4 symptoms delayed cell death, suggesting bone marrow transplantation as a treatment option.
Researchers found that excessive glucose chains induce neuronal death and cause Lafora disease by disrupting glycogen levels. This discovery may lead to new treatment strategies for other neurodegenerative diseases.
Researchers found that defects in protein glycosylation, a process adding sugars to proteins, promote inflammation and neurodegeneration in MS. A dietary supplement similar to glucosamine may correct these defects and treat both short-term and long-term symptoms.
Researchers identify pur alpha protein as key player in FXTAS, a neurodegenerative disorder caused by CGG repeats in the FMR1 gene. The protein's sequestration leads to toxic brain aggregates and movement problems.
A four-year study investigates how dietary iron is used by cells, addressing endemic iron deficiency affecting 80% of the world's population. The researchers aim to understand cellular iron metabolism, a key process impacted in various human diseases.
Researchers identify mutations in moonlighting enzyme dihydrolipoamide dehydrogenase (DLD) that contribute to the reduction of frataxin production, leading to increased severity of Friedreich's ataxia. The study suggests DLD as a potential target for therapies of this condition.
U of MN researchers have shown that early brain development is tied to the severity of adult-onset neurodegenerative diseases like spinocerebellar ataxia type 1. The study suggests doctors may be able to target treatment to coincide with critical times in development.
Researchers found that imatinib can block the development of disease in a mouse model of rheumatoid arthritis, providing hope for a new treatment. Additionally, studying adrenomedullin's effect on female mice revealed that reduced expression may severely decrease fertility. Meanwhile, a study on TNF-alpha discovered that it decreases e...
Scientists at Duke University Medical Center have identified a gene defect linked to hereditary spastic paraplegia, a rare nervous system disease with no cure. The discovery could lead to the development of drugs targeting the defective gene and provide insights into other neurodegenerative diseases.
The American Institute of Ultrasound in Medicine has awarded a New Investigator Award to Dr. Elisa Konofagou for her groundbreaking work on treating neurodegenerative diseases using ultrasound-induced blood-brain barrier opening. Seven nominees presented their research, showcasing the diverse applications of ultrasound technology.
Researchers have developed a new classification system for myosins, increasing the number of subclasses from 18 to 24. This allows for better understanding of each myosin's function and its evolutionary links with other proteins.
Researchers Phillipe Besnard and colleagues pinpoint CD36 as the sensor for lipid detection in the oral cavity. They show that lingual stimulation of CD36 influences behavioral and digestive physiology. The findings suggest a potential pathway mediating fat taste, which may contribute to obesity risk through feeding dysregulation.
Researchers identified mutations in the sialin protein, responsible for transporting sialic acid out of lysosomes. The study found that even milder forms of the disease involve reduced transport activity and potential therapeutic targets.
Researchers discovered that replenishing depleted neurosteroid hormone allopregnanolone significantly delayed neurological deficits and doubled the lifespan of mice with neurodegenerative disease. The treatment was particularly potent when administered early in life and showed promise for delaying symptom onset and progression.
Scientists have identified genetic mutations in heat shock proteins linked to Charcot-Marie-Tooth disease, a debilitating disorder affecting peripheral nerves. The study's findings hold promise for developing new therapies and improving diagnosis.
A new study suggests that a caspase-inhibiting drug could help delay ALS symptoms and prolong life. Researchers found that mice treated with zVAD-fmk lived 22% longer than untreated littermates, providing proof of principle for this potential treatment.
The Drosophila genome sequence completion reveals nearly two-thirds of genes known to cause human disease are present in the genome. This achievement demonstrates the value of basic research using Drosophila in combating human disease.
Researchers discovered the exact cellular site where the leprosy-causing bacterium attacks peripheral nerves. The findings point to a way of treating leprosy in its early stages and have tremendous ramifications for understanding nerve damage in other neurodegenerative diseases like muscular dystrophy and multiple sclerosis.
Scientists have mapped a defective gene responsible for hereditary amyotrophic lateral sclerosis (ALS) to chromosome 9, bringing closer the isolation of the gene and potential treatment options. The gene is suspected to be linked to similar neurodegenerative disorders, with symptoms appearing in childhood but never being fatal.
A team of scientists discovered a special protein that encases copper to transport it through the cell and deliver it to specific enzymes. The finding provides clues to toxic mechanisms of other metals and rare diseases related to copper metabolism.
Researchers have identified a gene responsible for late infantile Batten disease, a devastating genetic disorder that affects about 300 children in the US. The CLN2 gene codes for an enzyme that degrades proteins and its discovery may lead to effective treatment and new insights into the aging process.