Articles tagged with Muscle 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 new study provides deeper understanding of Myotonic Dystrophy Type 1 (DM1) by revealing an unexpected link between the cardiac condition and SCN5A protein. The research found that reducing fetal SCN5A expression did not correct heart defects, suggesting alternative approaches may be needed to address the condition.
Researchers used ex vivo lentiviral gene therapy to treat MPS IVA in mice, achieving partial correction of bone pathology and complete correction of heart pathology. The study suggests potential for novel therapies to treat patients with MPS IVA.
Researchers developed a mouse model mimicking the liver symptoms of myotonic dystrophy type 1, revealing fatty liver disease and hypersensitivity to medications. The study found that a gene regulating fat synthesis is misspliced in affected livers, providing potential treatment pathways.
Researchers found lamotrigine to reduce stiffness in non-dystrophic myotonias by around the same amount as mexiletine, offering a new treatment option. The trial results have direct implications for patient care and provide more 'real-world' options for patients with this life-changing muscle disorder.
Researchers found that weekend warrior and regular physical activity patterns were associated with substantially lower risks of over 200 diseases. Weekend warrior activity was found to be just as effective at decreasing risk as more evenly distributed exercise activity.
A new study proposes a theoretically new mechanism to modulate spinal reflexes at the same spinal cord level as stretch reflexes during voluntary movements. The research, led by Biomedical engineering doctoral student Grace Niyo, suggests that a simple spinal circuit can correct self-perturbations from stretch reflexes to produce smoot...
Chung-Ang University researchers have identified a potential anti-aging drug called IU1 that enhances proteasomal activity and autophagy, leading to improved muscle strength and extended lifespan in fruit flies. The study suggests that preventing disruption of protein homeostasis mechanisms could be key to increasing longevity and impr...
Researchers at Texas A&M University have developed a method to recharge cellular mitochondria using nanotechnology, potentially extending healthy lifespans and improving outcomes for patients with age-related diseases. The molybdenum disulfide nanoparticles stimulate mitochondrial regeneration, helping cells generate more energy.
Researchers comprehensively reviewed cerebellar involvement in Parkinson's disease, highlighting the pathophysiological role of the cerebellum in motor and non-motor symptoms. Studies showed abnormal α-synuclein aggregation, neurodegeneration, and altered functional connectivity between the cerebellum and other brain regions.
A University of Houston team developed non-invasive, comfortable, and safe wearable sensors to monitor eyeball movements, providing early warning signs of brain-related disorders. The new sensors have potential applications in diagnosing conditions like ADHD, autism, Alzheimer's disease, Parkinson's disease, and traumatic brain injuries.
Genethon has developed an innovative gene therapy vector that effectively targets muscle tissue while reducing the risk of liver penetration. The new capsid design uses AI predictive methodology to improve efficacy and safety, paving the way for more effective treatments for neuromuscular diseases.
Researchers at CNIC have identified endothelial-to-mesenchymal transition as a novel mechanism in premature atherosclerosis in progeria. The study proposes a new therapeutic target for this disease and highlights the importance of investigating rare diseases like progeria.
A new study found that 2-bromopalmitate treatment reverses cell senescence in human vascular smooth muscle cells, reducing DNA damage markers and promoting cell proliferation. The research suggests a critical role for protein palmitoylation in regulating the senescent phenotype.
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 ...
A new screening tool, DuMAND Checklist, has shown promise for assessing neurobehavioral difficulties in children with Duchenne muscular dystrophy and improving quality of life. The checklist covers a range of issues including behavior, psychiatric disorders, and cognitive deficits.
Researchers developed a new brain-computer interface that translates brain signals into speech with up to 97% accuracy, enabling a man with amyotrophic lateral sclerosis (ALS) to communicate with friends and family. The system was tested in real-time conversations with continuous updates, achieving high word accuracy rates.
Researchers have identified a metal deficiency in SOD1 protein associated with motor neurone disease using native ambient mass spectrometry imaging. This breakthrough could lead to new insights and treatments for the disease, which affects around 5,000 people in the UK.
Researchers at WVU created a motion-compatible brain scanner that allows patients to move around during imaging. The Ambulatory Motion-enabling PET (AMPET) scanner can help study human behaviors, balance, and emotions, and may be used to monitor brain activity for PTSD treatment and mindfulness meditation.
University of California San Diego researchers used cryo-electron microscopy to capture the first 3-D images of a key muscle receptor, shedding light on why newborn humans develop slowly while cows mature quickly. The study's findings may help develop future treatments for muscular disorders.
A study published in Circulation found that adults aged 50-54 with severely narrowed leg arteries had a higher risk of amputation after emergency surgery than those aged 80-84. This contradicts the traditional belief that older people are at increased risk.
Researchers at the University of Houston College of Pharmacy discovered key mechanisms of skeletal muscle regeneration and growth following resistance exercise. Increasing levels of Inositol-requiring enzyme 1 (IRE1) or X-box binding protein 1 (XBP1) in muscle stem cells may improve muscle repair and reduce disease severity.
Researchers at UW Medicine have developed a new gene therapy that delivers protein packets to replace defective genes in muscles, halting disease progression and reversing pathology. The therapy uses adeno-associated viral vectors and aims to restore normal muscle health, with human trials expected to begin in two years.
Researchers created a new cell model to study the effects of senescence on lung fibroblasts. Senescent alveolar epithelial cells triggered fibrotic activation in lung fibroblasts, which was attenuated by senolytic therapy.
The study found that exercise increased PEDF levels in skeletal muscles and suppressed senescence markers in the lungs. PEDF also reduced senescence markers in multiple tissues and attenuated decline in respiratory function in pulmonary emphysema mouse model, suggesting its potential as a therapeutic agent for age-related diseases.
The University of Toronto has introduced comprehensive guidelines for healthcare professionals to address muscle-building supplement use among adolescents and young adults. These guidelines focus on assessment and harm reduction strategies to better support young individuals engaged in the use of these supplements. Healthcare professio...
A new global definition of sarcopenia is proposed, aiming to unify research and clinical practice. The definition may help identify low muscle mass or strength in older people, increasing the risk of poor outcomes such as fragility and disability.
Researchers at Duke University have developed a technique to grow complex, functional 3D muscle tissue from stem cells in the laboratory, replicating patient symptoms and treatment responses. The study reveals biological mechanisms underlying LGMD2B's characteristic loss of mobility and demonstrates that existing treatments may allevia...
Researchers at MD Anderson Cancer Center have identified a small molecule compound that restores physiological levels of telomerase reverse transcriptase (TERT), reducing cellular senescence and tissue inflammation. TERT restoration also spurred new neuron formation with improved memory and enhanced neuromuscular function.
Researchers have developed three new cellular models of myotonic dystrophy type 1 that accurately represent the clinical diversity of the disease. The models show great heterogeneity in genetic expansion and molecular alterations, making them suitable for studying pathophysiology and testing therapeutic options.
A preliminary clinical trial found that nicotinamide riboside, a form of vitamin B3, increased the walking endurance of patients with peripheral artery disease by over 57 feet. The study suggests that nicotinamide riboside may be a new option for treating chronic leg disease.
Researchers at Johns Hopkins Medicine identified a potentially new biological target involving Aplp1, which drives the spread of Parkinson's disease-causing alpha-synuclein. The findings suggest targeting this interaction with drugs could slow Parkinson's disease progression and other neurodegenerative diseases.
Researchers tested a therapy combining photobiomodulation and idebenone to minimize Duchenne muscular dystrophy progression. The strategy prevented muscle degeneration and improved regenerative capacity, with synergistic effects observed when administered together.
The IOF position paper emphasizes the need for population-specific vitamin D approaches, considering factors like diet, skin pigmentation, and supplement use. The authors also highlight the importance of standardized measures of 25(OH)D in future studies.
Researchers discovered that PMP22 duplication disrupts lipid metabolism and plasma membrane organization in developing Schwann cells, leading to myelin degradation and nerve damage. Targeting dysregulated lipid pathways may reverse some detrimental effects of CMT1A.
A recent study found that the SMCHD1 protein plays a crucial role in regulating alternative splicing, which affects the progression of FSHD. Mutations in SMCHD1 lead to splicing errors, disrupting genes like DNMT3B and causing harmful overexpression of DUX4.
A new study reveals how accumulation of IMAT drives diseases such as muscle loss, type 2 diabetes, and cardiovascular disease. Regular exercise and healthy diet can prevent and reverse IMAT accumulation.
The study reveals that FLVCR1 and FLVCR2 transport choline and ethanolamine across cellular membranes, supporting cell growth and stability. This discovery contributes to understanding rare diseases and developing new therapies for patients suffering from severe neurological and muscular disorders.
Researchers have developed a novel platform for modeling human muscle diseases in C. elegans worms using patient-derived extracellular vesicles, revealing muscle atrophy similar to human symptoms. The innovation enables versatile and scalable disease modeling with potential applications beyond genetic disorders.
A Swedish study of people living with obesity found that poor muscle health is associated with a higher risk of an early death. Adverse muscle composition was up to three times more likely to lead to death during the course of the study than those with healthy muscles.
Researchers analyzed epigenetic modifications in motor neurons from nearly 400 ALS patients, identifying 30 locations with modifications linked to disease progression. The findings may help develop targeted treatments for specific types of ALS.
Researchers used a novel deep proteomics approach to investigate the effects of aging and resistance training on skeletal muscle. The study found that aging predominantly affects non-contractile proteins, while resistance training has minimal effects on protein abundance.
Researchers at NeuRA and UniSA found that early detection and comprehensive treatment can lead to significant recovery for most people with Complex Regional Pain Syndrome (CRPS) within 12-18 months. The study reviews the latest advances in CRPS epidemiology, pathophysiology, diagnosis, and treatment.
A groundbreaking study reveals an unsuspected role of the SNUPN gene in muscle cell function, identifying it as the causative factor for a debilitating muscular dystrophy. Researchers found that alterations in the Snurportin-1 protein encoded by the SNUPN gene disrupts muscle cell integrity and function.
Researchers discovered that eliminating progerin from vascular smooth muscle cells prevents atherosclerosis and improves life expectancy in HGPSrev mice. This finding suggests a potential therapeutic strategy for treating progeria, an extremely rare genetic disease affecting 1 in every 20 million people.
A comprehensive atlas of ageing human muscle reveals genetic and cellular processes behind muscle deterioration, including new cell populations that may explain age-related differences. The study also identifies compensatory mechanisms to counteract ageing, offering avenues for future therapies.
A study in the Journal of Neuromuscular Diseases found that disease-modifying gene therapy treatments improve motor function, bulbar function, and pulmonary function in infants with spinal muscular atrophy. The real-world data from a large patient registry confirms improved safety profiles for early treatment opportunities.
Researchers from the University of Cincinnati presented findings on the effectiveness of a two-component enzyme replacement therapy for late-onset Pompe disease. The study showed that patients treated with this regimen experienced improvement or stability in motor function, pulmonary function, and muscle strength. Additionally, experts...
A blended antioxidant supplement improved spatial learning ability and short-term memory in supplement-treated aged mice. The discovery suggests that the supplements may also prevent age-related cognitive decline in humans and mitigate muscle frailty.
A recent review highlights the positive effects of caloric restriction on cardiovascular health, linked to sirtuin activation and improved lipid metabolism. The study suggests that caloric restriction regulates metabolic processes via NAD+ levels, activating SIRT1 and modulating cardio-protective pathways.
Researchers discovered two novel GNE gene mutations that may cause a rare blood disorder called macrothrombocytopenia. The mutations affect the synthesis of sialic acid, critical for brain development and angiogenesis. Further studies are needed to understand the mechanism underlying this disorder and explore therapeutic interventions.
Researchers at the University of Toronto and Sinai Health have created a new platform to identify proteins that can be co-opted to control the stability of other proteins. The study identified over 600 new effector proteins that could be used therapeutically, including those that can efficiently degrade or stabilize target proteins.
Researchers discovered a new treatment that strengthens muscles in patients with Myasthenia Gravis, an autoimmune disease leading to severe weakness and fatigue. The breakthrough, targeting the connection between nerves and muscle cells, shows promising results without significant side effects.
A recent discovery reveals that the natural molecule trigonelline can increase NAD+ levels and improve muscle function during ageing. Lower levels of trigonelline were found in older people with sarcopenia, a condition where muscles weaken and mass is lost.
The chikungunya virus infects CD14+ CD16+ monocytes and affects proteins holding epithelial cells of the blood-brain barrier together. The study found severe alterations in coagulation cascade, hemodynamic damage in organs, and high levels of inflammatory cytokines.
A recent study at Umeå University has discovered a specific gene, fhl2b, that protects against severe muscle disease by preventing the breakdown of muscles in the body. The researchers found that when this gene is expressed in all muscles, muscular dystrophin is alleviated throughout the body.
An international team of scientists developed AI technology to analyze limited data on rare diseases. The method uses multi-layer networks to explore relationships between genes in patients, revealing genetic causes and severity. This breakthrough opens new avenues for treating rare diseases, including myasthenic-congenital syndromes.
A study by UC San Francisco researchers found that daily cannabis users had a 25% increased risk of heart attack and a 42% increased risk of stroke compared to non-users. The study also found significant cardiovascular risks associated with cannabis use, including coronary heart disease and the combination of heart attack and stroke.
A study analyzing ELSA data found that osteoporosis, heart disease, and poor hearing increased frailty risk in men, while high fibrinogen levels, diabetes, and stroke were linked to higher risks in women. This highlights the importance of gender-specific action plans and intervention for older people.
A new study aims to enhance and prolong vaccine effectiveness by delivering adjuvants to white blood cells using lipid nanoparticles. The research, led by WVU professor Sharan Bobbala, has the potential to provide broader protection against evolving viruses and multiple diseases.