Articles tagged with Muscle Diseases
Researchers at Beth Israel Deaconess Medical Center discovered a non-ectodermal and mesodermal origin for large numbers of enteric neurons born after birth. This finding overturns decades of scientific dogma and offers hope for disease-modifying cures to aging patients.
A new open-source software, NMSM Pipeline, enables clinicians and engineers to create personalized computer models of patient movement to optimize treatment designs. The software uses physics-based models to predict and optimize functional outcomes for patients with various mobility impairments.
Researchers at EMBL Heidelberg discovered that mutations in the RBM20 gene cause familial DCM by disrupting normal RNA splicing, leading to detrimental cytoplasmic granules. Targeted gene editing via CRISPR-Cas9 and restoring nuclear localisation of RBM20 could improve therapy options for patients.
A muscle-building supplement called beta-hydroxy beta-methylbutyrate (HMB) has been shown to reduce plaques and increase factors for neuronal growth in mice with Alzheimer's-like pathology. The study found that HMB stimulates a nuclear hormone receptor to improve memory and learning in mice with Alzheimer's disease.
A team of scientists at Harvard Medical School has identified six chemical cocktails that can restore cellular aging and rejuvenate human cells. The study builds upon the discovery of Yamanaka factors, which can convert adult cells into induced pluripotent stem cells, raising hopes for treating age-related diseases and injuries. The im...
A new special issue of Calcified Tissue International & Musculoskeletal Research explores how the skeleton functions as both a secretory organ and an endocrine target tissue. Researchers discuss key avenues in this area of research, including deciphering hormone messages encoded in bone cell secretory products.
A new study has created the world's largest map of normal breast tissue, highlighting 12 major cell types and 58 biological cell states. The atlas also identifies differences based on ethnicity, age, and menopause status, providing a powerful resource for researchers studying breast cancer and other diseases.
Research at Umeå University reveals unique muscle fibers in extraocular muscles are resistant to ALS and increase in proportion when other fibers decrease. This finding could lead to new treatment strategies for slowing down the disease.
Research by West Virginia University professor Sean Tu found that orphan drugs earn pharmaceutical companies almost as much as those marketed to the general public. The Orphan Drug Act incentivizes companies with tax credits, longer patent exclusivity, and easier FDA review for treating rare diseases.
The new scientific statement highlights the importance of identifying the root cause of pediatric cardiomyopathy to develop effective treatment strategies. Genetic testing is recommended for all children with cardiomyopathy, which may lead to financial and emotional cost savings.
Indiana University School of Medicine researchers will investigate muscle-directed gene therapies and test alternative treatment options for degenerative disorders like Duchenne muscular dystrophy. The goal is to develop more successful and long-term ways to help patients living with muscle disorders.
Researchers used mouse genetics to determine if brain or spinal cord causes dystonia, finding that spinal cord is responsible. Spinal cord dysfunction leads to signs of dystonia similar to those seen in humans, providing a new target for treatment.
A team of researchers has identified TAK1 as a regulator of skeletal muscle mass, slowing down disease progression and improving muscle function in Duchenne muscular dystrophy. By targeting this protein, they can suppress muscle fiber death and enhance myofiber growth, offering a promising new approach to treatment.
The development of SimulScan technology will help clinicians diagnose disordered swallowing more accurately. The researchers aim to investigate how swallowing behaviors change across the lifespan to create personalized treatments for patients with dysphagia.
Professor Bess Dawson-Hughes has been recognized with the 2023 IOF President’s Award for her significant contributions to advancing osteoporosis research and treatment. Her extensive body of work has led to a greater understanding of nutrition's role in age-related bone loss.
A new study published by Edith Cowan University found that boxing programs can improve symptoms of Parkinson's Disease, including fatigue and sleep, in early-stage patients. The program combined elements of exercise, computerized cognitive training, and socialization into a single activity.
A study published in Neurobiology of Disease suggests that targeting the sigma-1 receptor and ATAD3A protein may prevent mitochondrial dysfunction in ALS. The researchers found that this approach could lead to a novel therapeutic strategy for neurodegenerative diseases.
Researchers at Massachusetts General Hospital developed a genetic therapy to correct myotonic dystrophy in mice by targeting the abnormal splicing of the Clcn1 gene. The treatment restored muscle strength and corrected muscle stiffness, reversing muscle fiber type transitions.
Researchers identified a technique to detect abnormal protein deposits linked to Parkinson's disease, confirming its accuracy for early detection and characterisation. The α-synuclein seed amplification assay (αSyn-SAA) can identify people with Parkinson's disease and at-risk individuals prior to diagnosis.
Researchers at Indiana University School of Medicine investigated the protein BVES and its crucial role in muscular dystrophy. They discovered that inhibiting proteasome degradation with Bortezomib can alleviate symptoms of BVES-deficient muscular dystrophy.
Researchers from the Smidt Heart Institute found that individuals with spherical hearts are 31% more likely to develop atrial fibrillation and 24% more likely to develop cardiomyopathy. The study identified four genes associated with cardiomyopathy and a greater risk of developing atrial fibrillation.
Research by Whitehead et al. reveals that cellular senescence triggers amyloidosis through changes in small extracellular vesicles and extracellular matrix composition. The study provides novel insights into the formation of aortic medial amyloid and offers potential therapeutic targets for mitigating its effects.
A new study found a protein that regulates macrophage function, clearing residues from regenerating muscle and recovering regenerative capacity in aged mice. The discovery holds promise for regenerative medicine and aging, potentially improving the success of current stem-cell based therapies.
Researchers have discovered a novel medication that effectively treats a rare hereditary muscle disease causing complete immobility and death. The treatment has also shown promise in treating severe statin-associated myopathy, with improved symptoms in patients awaiting treatment.
A study by IMBA researchers links muscle degeneration to a deficiency in the enzyme PCYT2, essential for lipid synthesis. PCYT2 depletion affects mitochondrial function and muscle energetics, highlighting the importance of lipid balance in muscle health.
The American College of Chest Physicians released a clinical practice guideline on respiratory management for patients with neuromuscular weakness, providing evidence-based recommendations for mouthpiece ventilation and airway clearance therapies. The guideline aims to improve care for this vulnerable population.
Researchers developed a new tool to diagnose and assess sarcopenia using musculoskeletal ultrasound scans, which provides a muscle quality scoring system. The technique is validated with anatomical and histological samples and has potential applications in other muscle diseases and sports rehabilitation.
A new study published in Arthritis & Rheumatology reports significant improvements in disease activity for patients with refractory juvenile dermatomyositis treated with abatacept therapy. The randomized controlled trial demonstrates the potential of abatacept as a treatment option for this rare and debilitating condition.
A protein complex formed of HuR and YB1 is crucial for messenger RNA stability during muscle-fiber formation. Further research could help scientists influence protein synthesis and develop novel therapeutics for muscle-related pathologies.
Researchers at Universitätsklinikum Erlangen have successfully treated a patient with anti-synthetase syndrome using CAR T-cells. The innovative treatment approach has shown promising results, allowing the patient to recover entirely from their autoimmune disease after six months.
A recent study published in JHEP Reports found that individuals with low thigh muscle volume and high muscle fat infiltration had an increased mortality risk. The researchers also discovered that poor muscle health was not associated with a worsened prognosis in people with fatty liver disease.
A recent study from the University of Toronto found that greater screen time is associated with more symptoms of muscle dysmorphia among Canadian young people. The researchers analyzed data from over 2,500 adolescents and young adults and found that social media use, texting, TV watching, and video chatting were linked to muscle dysmor...
A study published in Journal of Neuromuscular Diseases demonstrates a positive effect of nusinersen treatment on motor function in ambulant pediatric and adult SMA patients. Clinically meaningful improvements in walking distance were observed in a subgroup of patients, with only five adult walkers showing a decline.
Scientists have developed a technique to detect RNA structures in live cells, shedding light on the role of G-quadruplexes in neurodegenerative diseases. The method uses fluorescent spectroscopy and resolves existing limitations in studying these structures in real-time.
Researchers discovered that myosin motor proteins must be activated before muscles can contract, potentially leading to breakthroughs in treating inherited cardiac conditions. This new understanding could lead to medical remedies for diseases like dilated cardiomyopathy and hypertrophic cardiomyopathy.
A study by researchers in Brazil found that loss of muscle mass during COVID-19 hospitalization is associated with the development of persistent symptoms such as weakness, shortness of breath, and fatigue. The study also showed that patients who lost more muscle mass had higher healthcare costs six months after discharge.
Researchers found that the F-box gene FBXC-58 is a novel mediator of dietary restriction effects on extending the health span of Caenorhabditis elegans. FBXC-58 prevents muscle aging and extends longevity through an S6 kinase-dependent pathway.
Biomarkers of bone turnover are essential for diagnosing and treating metabolic musculoskeletal diseases. The International Osteoporosis Foundation, IFCC, and ESCEO have collaborated to publish authoritative reviews on the use and interpretation of these biomarkers.
A new study by researchers at Florida Atlantic University explored the effects of resistance training on older adults' cellular level. The study found that resistance training did not significantly affect inflammatory proteins or redox balance markers, but showed a significant reduction in a specific protein ratio. This may support the...
A new study has identified distinct patterns of circular RNA expression in human ALS muscle tissue, which display disease-specific gradients and could inform about neuromuscular molecular programs in ALS. The research reveals that specific circRNAs are elevated in ALS muscle biopsies but reduced in spinal cord samples from ALS patients.
Researchers developed an iEMG classifier framework for detecting myopathy and neuropathy, achieving high accuracy in three muscle types and low computational time. The study showed promise for real-time implementation, aiding clinicians in making quick and accurate diagnoses.
Researchers at the University of Montreal discovered a key mechanism in muscle regeneration, enabling targeted therapies for diseases like muscular dystrophy. By biasing the conformation of a protein called ELMO2, they improved muscle fusion and regeneration in mouse models.
A team of scientists discovered that ceramides accumulate in muscles during aging, leading to a decline in muscle function. Treating old mice with ceramide blockers prevented age-related loss of muscle mass and improved muscle strength.
Researchers highlight recent progress in organotypic models, which offer a balance between the accessibility and control of in vitro context. These models have been used to study various aging-related phenotypes, including skin, gut, and skeletal muscle, providing valuable insights into the underlying mechanisms.
Researchers identified a link between skeletal muscle atrophy and the loss of two types of myosin. The study showed that mice lacking these proteins experienced severe muscle atrophy and died within four weeks, providing a potential animal model for treating human muscle-wasting disorders.
The UMass Lowell-led team aims to understand how proteins affect biting function in animals, with potential applications in treating diseases like muscular dystrophy. The research will involve studying molecular properties of myosin, a fibrous motor protein, and its impact on muscle force and velocity.
A recent study published in Nature Computational Science reveals that specific regions of the brain process both individual and combined words, while others focus solely on individual words. The research could contribute to the development of wearable neurotechnology devices that can decode language directly from brain activity.
Scientists at Medical College of Georgia discover a new target to intervene in coronary artery disease, the most common type of heart disease. The target is ATIC, a gene essential for purine production, which increases in response to arterial disease.
A new study reveals that gynecology prioritizes childbirth and fertility over women's health issues such as pelvic damage, sexual pleasure, and menopause. The study proposes separating obstetrics from gynecology and incorporating feminist studies into medical training to prioritize women's needs.
Researchers developed a new device, MAGENTA, that prevents and supports muscle atrophy recovery. The device stimulates muscles to stretch and contract, triggering key molecular pathways for growth. It has potential applications in treating various diseases such as ALS and MS.
Researchers found a longer PR interval and prolonged QT duration in genetically modified pig hearts after transplantation into humans, indicating signs of electrical disease. The study provides a foundation for future research to better understand xenotransplantation's effects on the heart's electrical system.
A new study in The American Journal of Pathology found that inhibiting neuropilin 2 in smooth muscle can enhance contraction and motility of the distal colon. This could provide opportunities to regulate smooth muscle activity in patients with colonic disorders.
A large randomized clinical trial demonstrated Octagam 10% as an efficacious and well-tolerated treatment option for adult dermatomyositis patients. The study showed improved outcomes in patients with this rare disease, providing a much-needed treatment alternative.
Researchers studying Duchenne muscular dystrophy (DMD) made a significant discovery that the disease begins in myoblasts, which are crucial for muscle growth and regeneration. This new understanding could lead to delayed disease progression and extended patient lifespan by targeting these cells from birth.
Researchers at UVA Health have developed a new magnetic-resonance imaging (MRI) technique to track peripheral artery disease, which affects over 200 million people worldwide. The CEST approach produces comparable results to the current gold standard without requiring specialized equipment.
Women with a history of gestational diabetes are at substantially higher risk of cardiovascular and cerebrovascular diseases, including coronary artery disease, heart attack, and stroke. Continuous monitoring is crucial to mitigate these risks.
A phase 3 clinical trial showed tofersen reduces SOD1 and neurofilament light protein levels, slowing down disease progression. Longer-term use may help stabilize muscle strength and control in people with genetic ALS.
Researchers at Tokyo Medical and Dental University identified a compound LAMZ that stimulates muscle cell growth, reduces bone resorption, and promotes bone formation. Administered to mice with locomotor frailty, LAMZ improved muscle and bone health.
Researchers from Johns Hopkins Medicine and Dana Farber Cancer Institute found that irisin reduces levels of a protein linked to Parkinson's disease and halts movement problems in mice. Irisin also speeds up the transport and degradation of alpha synuclein via fluid-filled sacs called lysosomes in brain cells.
A novel stem cell-gene therapy has been shown to be safe in humans, with no serious side effects reported in the first trial. The treatment targets motor neurons that die in patients with amyotrophic lateral sclerosis (ALS), a fatal neurological disorder.