Articles tagged with Amyotrophic Lateral Sclerosis
Researchers have identified a novel genetic marker, rs139185008, that distinguishes C9orf72 repeat expansion carriers from non-carriers in large population-based cohorts. This SNP is strongly associated with patients having a clinical diagnosis of FTLD and motor neuron disease ALS.
Researchers at The Francis Crick Institute successfully reversed a key hallmark of motor neurone disease by blocking the activity of an enzyme called VCP. This breakthrough, published in Brain Communications, suggests that the abnormal accumulation of proteins involved in RNA regulation might be a factor contributing to the disease.
A recent study discovered that brain cells cannot maintain the myelin sheath in the absence of the TDP-43 protein. Restoring cholesterol levels has been proposed as a potential therapeutic strategy for neurodegenerative diseases associated with TDP-43. The research found that oligodendrocytes, responsible for producing myelin, have def...
A study published in Science Translational Medicine identified a common cellular defect in ALS that can be treated with an antisense oligonucleotide drug. Researchers found that the accumulation of CHMP7 protein in the nucleus leads to nuclear pore injury and TDP-43 mislocalization, ultimately causing cell death.
Researchers identified a new gene, TP73, associated with an increased risk of sporadic ALS. Mutations in this gene have been found to interfere with nerve cell health and lead to abnormal cell differentiation and increased cell death. This discovery provides a potential target for therapy development.
A distinctive inflammatory signature has been found in C90RF72 ALS patients, characterized by an increase in pro-inflammatory molecules in serum and cerebrospinal fluid. This finding informs the development of targeted anti-inflammatory therapies for this subgroup of ALS patients.
A new study found that networks of nerve cells in the spinal cord called inhibitory interneurons lose connection to motor neurons, which could explain why motor neurons die in ALS. This loss happens before motor neuron death and affects fast-twitch motor neurons first.
Researchers link ALS to a unique genetic mutation affecting lipid metabolism, providing clues for a novel therapy and understanding the disease's progression. The study reveals slower symptom onset and longer survival rates in children compared to adults with ALS.
A revolutionary assistive technology called Earswitch allows people with Motor Neurone Disease (MND) to communicate by tensing a tiny muscle in their ear. The device uses the tensor tympani muscle, which can be controlled voluntarily, and offers a new way for individuals with severe communications restrictions to express themselves.
A new study reveals that protein Rab2 is essential for effective nerve cell signaling in the central nervous system. The researchers found that when Rab2 is absent or dysfunctional, signal molecules accumulate in axons like a traffic jam.
Researchers found that Staufen1 accumulates in brains of patients with neurodegenerative disorders, disrupting normal cellular function. Lowering Staufen1 levels may improve pathology and rid cells of stress granules, a key finding for potential treatment approaches.
Researchers have identified a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient, suppressing Lou Gehrig's Disease. The LSM12-EPAC1 pathway normalizes abnormal RAN concentration differences, restoring cellular function.
Researchers at Case Western Reserve University have determined the structure of protein fibrils linked to Lou Gehrig's disease and other neurodegenerative disorders. The findings provide clues on how toxic proteins clump and spread between nerve cells in the brain, potentially leading to the development of new treatments.
Researchers at the Francis Crick Institute have identified the key cellular change that leads to harmful astrocytes in amyotrophic lateral sclerosis (ALS). The discovery could lead to new therapies to slow disease progression and is also relevant to other neurodegenerative diseases like Parkinson's and Alzheimer's. Understanding this c...
Researchers have identified a new signaling pathway that regulates the production of RNA-protein complexes in neurons, which are overproduced in neurodegenerative diseases such as ALS and senile dementia. This discovery may lead to better understanding and potential therapeutic options for these conditions.
Scientists at Northwestern University have identified a compound that eliminates degeneration of upper motor neurons in ALS, a neurodegenerative disease. After 60 days of treatment, diseased brain cells regain health and function like healthy control neurons.
Researchers found higher than expected genetic changes in a group of 100 MND patients, suggesting routine genetic testing may be beneficial. The study recommends genetic testing for all MND patients, regardless of family history, to improve disease subclassification and tailored treatments.
Researchers identify DNA-RNA hybrids as a key factor in ALS progression, leading to increased genomic damage and genetic instability. This breakthrough opens new avenues for understanding the disease's molecular basis and developing therapies to slow its evolution.
A novel method detects conformational changes in TDP-43 protein in ALS patients' CSF, showing high sensitivity and specificity. The technology has potential for diagnosing and developing clinical therapies for this fatal neurodegenerative disease.
Researchers at the University of Sheffield discovered a genetic risk factor for MND in non-coding DNA that can be targeted by SynCav1, potentially halting or preventing disease progression. The study built on patient data from Project MinE and could lead to personalized medicine for MND patients.
The Canadian Medical Association Journal published a new ALS guideline establishing a patient-focused approach to manage the disease. The guideline provides recommendations on communication, disease-modifying therapies, multidisciplinary care, and caregiver support.
Researchers have developed novel Selenium-based compounds that can stabilize the SOD1 protein, which causes ALS. These compounds show improved in vitro therapeutic effects and demonstrate disease onset delay in an ALS mouse model. The findings hold promise for a new class of drug candidates for ALS treatment.
Researchers at the University of Maryland School of Medicine have identified a new genetic defect linked to amyotrophic lateral sclerosis (ALS), a devastating condition causing progressive paralysis and mental deterioration. The discovery may lead to new treatments for ALS, with potential implications for other neurodegenerative diseases.
A study from North Carolina State University has identified blood plasma metabolite markers that can aid in ALS diagnosis, rule out environmental neurotoxin involvement, and predict disease progression. Elevated creatine levels and decreased creatinine and methylhistidine were found in ALS patients.
A study published in Frontiers in Molecular Neuroscience reveals the molecular underpinnings of electrical signals from potassium and sodium ion channels within neurons. The research identifies potential targets for future treatment strategies using existing drugs approved by the FDA.
Scientists discovered biological markers in teeth of children who later developed ALS, shedding light on the disease's early stages and potential preventive strategies. The study found abnormal metal uptake patterns, suggesting a link between environmental factors and disease onset.
Researchers investigated the association between stress-related disorders and neurodegenerative diseases in Sweden's national health registers. Stress-related disorders were found to be associated with an increased risk of these diseases.
A recent animal study found that adding L-serine to the diet of vervets exposed to cyanotoxin BMAA significantly reduced signs of ALS-like pathology. The study provides a promising model for understanding ALS development and potential treatments.
A study by Michigan Medicine team discovered that repeat expansions cause neurodegenerative diseases but also found normal functions of these repeats in regulating protein production in healthy nerve cells. The research suggests a potential pathway for treating Fragile X syndrome and other disorders.
A new study identified Gemin3 as a molecular 'bridge' between genes causing amyotrophic lateral sclerosis (ALS), a neurodegenerative disease. The research holds promise for developing treatments effective for a broad range of ALS patients.
Researchers at KBRI found a new molecular mechanism that can inhibit neuronal degeneration by TDP-43, which is a major cause of dementia and Lou Gehrig's disease. The discovery reveals a potential therapeutic strategy to remove abnormal protein accumulation in neurons of patients with dementia.
A recent study by Cold Spring Harbor Laboratory has made significant strides in understanding the role of proteins called TDP-43 in ALS. The researchers found that TDP-43 aggregates in nerve cells can cause a toxic effect, leading to paralysis. This discovery opens up new avenues for developing effective treatments and therapies.
Researchers found that ALS patients with a specific genetic variation in the IL6 receptor gene experience more severe symptoms and faster disease progression. The study suggests this polymorphism may serve as a target for new treatments and lay the groundwork for future clinical trials.
Researchers at Neuroscience 2019 announce new gene therapy research promising to prevent, treat, and reverse incurable neurological disorders. Successes in restoring lost functions in animal models of neurological diseases are discussed, as well as technique advancements that may improve future treatments.
Amyotrophic Lateral Sclerosis (ALS) researchers found that aggregation of TDP-43 is not harmful but actually protects cells. This discovery challenges the assumption that alleviating protein aggregates is necessary to treat neurodegenerative diseases like ALS. The study opens doors to radically new therapeutic approaches if aggregation...
Researchers at Oregon State University have made an important advance in understanding why certain cells in the nervous system are prone to breaking down and dying, which is what happens in patients with ALS. The study suggests that a protein chaperone called heat shock protein 90 may be critical to neuron survival.
Scientists at MSD and Francis Crick Institute are working together to better understand Motor Neurone Disease, a devastating disease with no current treatments. The collaboration aims to identify key mechanisms that can kill motor neurons and build scientific understanding for future treatments.
Northwestern University scientists have received a $3.1 million grant to investigate drug therapies for ALS, targeting protein aggregation and upper motor neurons. Promising early results suggest compounds may have broader applications for neurodegeneration.
Researchers found that protein clumps in ALS neurons can be triggered by cellular stress and may provide a potential target for new therapies. Chemical compounds have been identified to prevent this stress-induced accumulation, offering a promising starting point for treating the disease.
Increasing Klotho levels improves neurological deficits and prolongs life span in an experimental ALS model. Brain immune cells also play a crucial role in protecting the brain against inflammation and motor neuron loss.
A $2.88 million NIH grant supports Jingsong Zhou's work to preserve mitochondria and understand the mechanisms behind ALS deterioration. Her novel approach investigates the theory that ALS affects the physiology of the whole body through defective cells in multiple organs.
Researchers found a critical structure within TDP-43 that causes nerve cell death in ALS and FTD. Modifying this structure could lead to new therapies for these devastating diseases.
Researchers found that the most common genetic cause of ALS, C9orf72 mutation, leads to toxic dipeptide repeat polypeptides (DPRs) disrupting nucleolar assembly. Longer DPRs are more toxic to cells, highlighting a potential prognostic value for ALS patients.
St. Jude scientists discover that ULK1 and ULK2 break down stress granules, which build up toxic proteins that kill muscle and brain cells in diseases including IBM, ALS, and FTD. Boosting these enzymes could help treat the conditions.
Lauren Sciences LLC has received an AU$1 million grant from FightMND to advance its development of LAUR-301, a novel V-Smart Nanomedicine for ALS. The therapy aims to protect motor neurons and induce neuro-restoration, slowing or reversing the disease.
Researchers developed an antibody to target TDP-43 protein aggregates in mouse brains, resulting in significant improvements in cognitive and motor performance. The breakthrough paves the way for immunotherapy development for ALS and frontotemporal dementias.
Researchers have developed a rodent model that mimics human swallowing problems in ALS, allowing for targeted study of preserving and restoring swallowing function. The research could one day lead to new treatments to slow the disease and improve quality of life for individuals with ALS.
A team of researchers from North Carolina State University has identified two promising proteins, chitinase-3 like1 and alpha-1-antichymotrypsin, that may improve the diagnosis and prognosis of ALS. The study found that models developed from proteins in cerebrospinal fluid were more useful than those in blood plasma.
Houston Methodist researchers have identified a repair defect in nerve cells that sends messages to the brain, potentially leading to a therapy for preventing or slowing down ALS. The team discovered a DNA Ligase-targeted therapy could inhibit oxidative damage repair in Amyotrophic Lateral Sclerosis.
A University of Bath team has biochemically characterised the protein produced by the C9orf72 gene, revealing it to be a guanine nucleotide exchange factor (GEF) that regulates molecules called RABs. This understanding is crucial in developing treatments and potentially a cure for neurodegenerative diseases ALS and FTD.
Researchers used muscle-on-a-chip technology to model ALS, revealing a promising treatment combination that may improve symptoms. The study found that combining two neuroprotective molecules can efficiently cross the blood-brain barrier and recover muscle contraction and neuronal survival.
A new study published in Neurology shows that amyotrophic lateral sclerosis (ALS) affects the mind, especially later in the disease, leading to cognitive and behavioral problems such as apathy, changes in eating behaviors, and loss of sympathy or empathy. People with ALS are recommended to be routinely screened for these issues.
Researchers developed a new method to measure degeneration of sensory neurons grown in a lab, improving the screening of experimental therapies for neurodegenerative diseases. The automated test uses software-assisted analysis to accurately assess nerve cell densities and shapes.
Researchers at Penn Medicine discovered PARP inhibitors could prevent toxic TDP-43 accumulations in brain cells. The treatment shows promise for neurodegenerative disorders like ALS and FTD.
Researchers found that supplementing mitofusion 2 protein could prevent nerve degeneration, muscle atrophy, and paralysis in a mouse model of Lou Gehrig's disease. The study suggests this approach may be a novel therapeutic strategy for the disease.
Researchers discovered that Kapβ2, a nuclear localization signal, plays a crucial role in transporting the FUS protein into the nucleus. The study found that when this system fails, FUS proteins aggregate and form toxic droplets, contributing to neurodegenerative diseases like familial ALS.
Researchers found that infusions of properly functioning Tregs significantly slowed ALS disease progression in patients. The treatment increased Treg levels by 30-40% and showed promise as a potential treatment for the debilitating disease.
A recent study published in Nature Communications has found that ebselen can correct many of the toxic characteristics of a protein causing some cases of hereditary motor neurone disease (MND). The drug-molecule can restore important steps in the SOD1 assembly process, potentially preventing neuronal cell death.
The ALS Association granted Lauren Sciences LLC its third award for developing LAUR-301, a V-Smart Nanomedicine for ALS. LAUR-301 aims to deliver GDNF across the blood-brain barrier and induce neuro-restoration in all ALS patients.
An international team has confirmed a new genetic mutation link to amyotrophic lateral sclerosis (ALS) by identifying KIF5A as a key player in axonal transport. The study used massive amounts of genetic data to pinpoint the link, providing important new directions for future gene therapies.