Articles tagged with Muscular Dystrophy
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Researchers developed a new gene therapy approach called exon skipping, which bypasses disease-causing mutations in genes to restore normal expression and protein production. This strategy has shown promising results in treating muscular dystrophy, with improved muscle force and increased body weight and muscle mass.
A study published in American Journal of Pathology found that tamoxifen can counteract some pathologic features in a mouse model of Duchenne muscular dystrophy. Tamoxifen improved muscle force, diaphragm and cardiac structure, reducing fibrosis by up to 50%.
Researchers have successfully treated Duchenne muscular dystrophy in dogs using gene therapy, reducing inflammation and improving muscle strength. The study, published in Molecular Therapy, provides a quantum leap forward in fighting this devastating disease, paving the way for future human clinical trials.
Researchers found that two sections of the dystrophin gene contain a 'claw' that grabs nNOS and brings it to muscle cells for repair. The discovery could lead to a therapy for Duchenne muscular dystrophy, which affects males predominantly.
A study at Cedars-Sinai found that the common drug tadalafil reversed the effects of a biochemical chain in patients with Becker muscular dystrophy, improving blood flow and oxygenation. The researchers plan longer-term studies to determine if this strategy can slow the course of the disease.
Scientists discovered injecting Wnt7a into muscle affected by Duchenne muscular dystrophy significantly increases its size and strength. The treatment shows promise as a therapy akin to insulin use for diabetics.
A team of researchers has identified two genetic factors behind facioscapulohumeral muscular dystrophy (FSHD), a rare form of inherited muscular dystrophy. The study found that a combination of genetic variants on chromosomes 4 and 18 cause the production of muscle-damaging toxins, leading to symptoms of the disease.
Researchers discovered that boosting a specific cell adhesion pathway with a common cellular chemical could improve muscle structure and function in zebrafish with muscular dystrophy. This finding holds promise for the development of new therapies for patients with congenital muscular dystrophies.
Researchers developed a mouse model of Fukuyama's muscular dystrophy that accurately replicates human disease pathology. The study found that removing the fukutin gene at different stages of development led to varying degrees of muscle impairment.
The Muscular Dystrophy Association has awarded a $308,000 grant to support the development of a new treatment for Duchenne muscular dystrophy. The therapy, which involves a highly potent protein, aims to prevent or reverse disease progression after onset.
A new study reveals that myotonic dystrophy patients prioritize fatigue, mobility, and sleep problems over symptoms like myotonia, which are often considered hallmark symptoms. Researchers have developed a patient-reported outcome measure to better evaluate the impact of experimental therapies on patients' lives.
Researchers at the Buck Institute for Research on Aging found that rapamycin improved function and extended survival in mice with a genetic mutation leading to dilated cardiomyopathy and rare muscular dystrophies. The study suggests a therapeutic possibility for human patients suffering from this form of disease.
A new gene therapy approach has been developed to deliver full-length versions of large genes, improving skeletal muscle function in patients with genetic disorders like dysferlinopathies. The strategy may hold new hope for treating limb girdle muscular dystrophy type 2B and other muscular dystrophies.
Researchers have developed a technique to reprogram adult cells from patients with limb-girdle muscular dystrophy into stem cells, which can then be genetically modified and transplanted into mice. The study shows promise for treating this rare form of muscular dystrophy.
Researchers at UCLA have identified a new compound, RTC13, that effectively counteracts 'nonsense' mutations causing Duchenne muscular dystrophy. The compound was found to partially restore full-length dystrophin protein, improving muscle strength in mice.
Researchers at the University of Nevada School of Medicine review the impact of MG53 protein therapy as a treatment option for Duchenne muscular dystrophy. The study found that MG53 facilitates rapid membrane repair to prevent damage to normal muscle, suggesting potential synergy with other therapies.
Researchers from the University of Minnesota have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that makes the production of human muscle cells efficient and effective. The study outlines a strategy for developing a rapidly dividing population of skeletal myogenic progenitor cells, set...
Researchers at the University of Melbourne have discovered a potential treatment for Duchenne muscular dystrophy by increasing levels of heat shock protein 72 in muscles, improving muscle strength and slowing disease progression.
A new approach to newborn screening for DMD uses a two-tier system with CK testing on dried blood spots and DNA testing, allowing for efficient and cost-effective diagnosis. This method has been validated in a pilot study of 37,749 newborn boys, detecting six cases of DMD gene mutations.
Scientists at the University of Nottingham used next-generation DNA sequencing to correct a patient's genetic diagnosis from incorrect to accurate. The new technique enables fast and affordable analysis of human genomes, providing hope for thousands of people living with muscle-wasting diseases in the UK.
Researchers at the University of Iowa have identified the critical sugar chain produced by the LARGE enzyme, which plays a crucial role in maintaining muscle cell viability. The study's findings could lead to rapid testing of potential muscular dystrophy therapies and treatments for Lassa fever.
Researchers discovered that increased production of microRNA miR-21 stimulates progressive muscle deterioration in a mouse model of Duchenne muscular dystrophy. Inhibiting miR-21 reduced collagen levels and prevented fibrogenesis in diseased animals, suggesting it as a potential therapeutic target.
Research found that people with myotonic muscular dystrophy are at higher risk for developing four specific types of cancer. Additionally, there may be an increased risk for other cancers such as eye, thyroid, pancreas, and female reproductive organs. Patients should prioritize cancer screening, particularly colon cancer screening.
Researchers have successfully delivered replacement genes to patients with muscular dystrophy using a 'chimeric' virus. The study demonstrates the potential of customized gene therapy as a treatment option for this devastating disease.
The National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program has announced its next round of drug development projects. Six new projects will focus on treatments for rare and neglected diseases, including musculoskeletal disorders, cognitive dysfunction disorders, and parasitic worm infections. The TR...
The first NIH-funded Center of Research Translation will focus on personalized drug development for Duchenne muscular dystrophy, aiming to find treatments effective for the majority of patients. The center will lay the groundwork for exon-specific drugs and optimize delivery and molecular targeting.
The Muscular Dystrophy Association has funded 40 new research initiatives targeting nearly two dozen progressive neuromuscular diseases, including Duchenne muscular dystrophy (DMD) and amyotrophic lateral sclerosis (ALS). New projects are underway in the US and internationally to find effective treatments for these diseases.
A novel molecular technique has restored dystrophin protein production in Duchenne muscular dystrophy patients, offering a new therapeutic option. The treatment, using antisense oligonucleotides, was well-tolerated and showed significant dose-dependent increases in muscle protein levels.
A study published in The Lancet reveals that targeted antisense therapy AVI-4658 can restore expression of a key protein lacking in patients with Duchenne muscular dystrophy. The treatment showed significant dose response, allowing boys to produce functional dystrophin protein up to 18% of normal levels.
A new gene mutation has been identified as the cause of a rare form of muscular dystrophy, with severe cognitive impairment. Researchers created a mouse model to study the mutation and found similar muscle and brain abnormalities, offering hope for potential treatments.
The Muscular Dystrophy Association has awarded $13.5 million in grants to support new research on neuromuscular diseases, including muscular dystrophies and ALS. The funding will aid in advancing understanding of disease processes and developing therapeutic strategies for these devastating conditions.
The University of Nevada, Reno has licensed its patent for laminin-111 to Prothelia, a Boston biotech company, which is developing a human version of the protein for clinical trials. The therapy shows promise in preventing muscle damage and could be an IV drug option for patients.
A team of researchers has identified a potential biomarker for predicting future metastasis in patients with the most common form of liver cancer. They also explored a new gene therapy approach to treating the underlying cause of most forms of muscular dystrophy.
The Muscular Dystrophy Association granted Acceleron Pharma a $1.5 million award to support the clinical studies of ACE-031 in Duchenne Muscular Dystrophy patients. The grant will enable gathering safe dosing and pharmacodynamic activity information vital to future studies.
A novel human protein called biglycan has been shown to significantly slow muscle damage and improve function in mice with Duchenne Muscular Dystrophy. The treatment restores utrophin presence in muscle cells, reducing muscle tissue damage by 50% compared to untreated mice.
Researchers found that the DUX4 gene is normally expressed only in early development but its suppression is inefficient in FSHD patients. This leads to toxic bursts of protein causing muscle cell death and muscular dystrophy.
A phase II clinical trial is underway to examine the efficacy of Revatio (sildenafil) in improving cardiac function for individuals with Duchenne muscular dystrophy. The six-month study aims to slow disease progression and increase life expectancy.
A clinical trial of gene therapy for muscular dystrophy has uncovered an unexpected aspect of the disease, revealing that some patients mount an immune response to the dystrophin protein even before receiving treatment. The study suggests that tailoring treatment approaches to suit individual patient needs could lead to better outcomes.
Researchers at Nationwide Children's Hospital and two other centers will explore new treatment strategies for Duchenne muscular dystrophy, a debilitating disease affecting children and young adults. The goal is to identify existing drugs that can inhibit muscle fibrosis and develop non-invasive imaging techniques to assess muscle damage.
Brown University has granted an exclusive license to Tivorsan Pharmaceuticals for a potential treatment of Duchenne muscular dystrophy, slowing muscle damage in mice by 50 percent. The treatment, based on biglycan protein, aims to prolong boys' ability to walk without assistance and perform daily activities.
A new study reveals that African Americans with muscular dystrophy face a significant mortality gap compared to their white counterparts, largely due to unequal access to quality healthcare and insurance coverage. This widening disparity is attributed to systemic inequalities in the healthcare delivery system and the effects of inadequ...
A new study published in Neurology shows that white men and boys are living longer with muscular dystrophy than their African-American counterparts. The research analyzed death records from 1986-2005 and found a significant racial disparity in life expectancy for those with the disease.
The study aims to determine the best balance between effective treatment and side effects for children with Duchenne muscular dystrophy. The researchers will assess the breathing capacity, satisfaction levels, and muscle function of patients, using three steroid treatments: prednisone, deflazacort, and a combination of both.
The NIH grant will support research into novel treatments for muscular dystrophies, including gene replacement and repair methods.
A recent study has revealed a model for understanding Facioscapulohumeral Muscular Dystrophy (FSHD), which is linked to the generation of toxic RNA that damages muscle cells. Variations in chromosome 4 play a crucial role in this process, and researchers have identified potential new treatments by silencing the effects of this RNA.
A research team has identified a DNA sequence in individuals with facioscapulohumeral dystrophy (FSHD) that causes the gene DUX4 to be more active. The study suggests that this protein is toxic to muscle cells and may hold key to developing new treatments or potentially curing FSHD, a progressive condition affecting 300,000 people worl...
Researchers discover that deleted versions of the DUX4 gene trigger its overexpression in FSHD patients, leading to disease progression. The finding provides a crucial step in understanding the disease and offers a potential therapeutic target for treatment.
Researchers will assess MRI technology to measure muscle tissue in children with Duchenne muscular dystrophy, aiming to facilitate therapy testing and improve disease management. The study may provide valuable guidelines for MRI use in clinical trials and drug tests targeting DMD treatments.
University of Missouri researchers have documented satellite cell movements and behaviors using time-lapse photography. Understanding the interactions between these cells and their 'host' myofiber may help overcome obstacles to gene therapies for muscular dystrophy.
Researchers at the University of Rochester Medical Center found that mexiletine is effective in alleviating myotonia, a central symptom of myotonic dystrophy. The medication reduces muscle stiffness and relaxation time by 38-59% in patients with the condition.
A team of researchers from Université Laval has proven that it is possible to repair the defective gene responsible for Duchenne muscular dystrophy. They developed enzymes called meganucleases that can correct the dystrophin gene and restore its expression in muscle cells.
A new study aims to investigate whether erectile dysfunction drugs can improve muscle blood flow and reduce fatigue in muscular dystrophy patients. The research, led by Ronald G. Victor, will test the effects of tadalafil on muscle blood flow during exercise in adult males with Becker muscular dystrophy.
A chemical called a molecular band-aid has been discovered to protect the hearts of Duchenne muscular dystrophy patients by preventing heart injury and remodeling. The treatment, which requires repeated injections, showed significant promise in a canine model, paving the way for potential human trials.
A new therapy has been found to prevent severe cardiac injury and ventricular dilatation in dogs with muscular dystrophy. The treatment, which involves chronic infusion of a membrane-sealing agent, restores the compliance of heart muscles from dystrophic dogs to normal.
A study published in Nature Structural & Molecular Biology reveals that a genetic mutation disrupts an array of metabolic pathways in muscle cells by affecting two key proteins. The loss of either protein accounts for most molecular abnormalities associated with the disease, while loss of both also seems to play an important role.
Researchers have identified a new form of adult-onset muscular dystrophy caused by recessive ANO5 mutations, which lead to abnormal membrane repair of muscle fibers. This discovery may lead to better treatments for all muscular dystrophies where such abnormalities play a role.
A University of Iowa study reveals a critical link in the sugar chain of an important muscle protein, providing insights into congenital muscular dystrophies and cancer progression. The discovery may lead to new therapies for treating these conditions.
A study demonstrates the effectiveness of a gene delivery strategy producing follistatin, which inhibits myostatin, in non-human primates, showing pronounced increases in muscle size and strength. The treatment is well-tolerated and has long-term effects, paving the way for potential clinical trials.
Researchers at the University of Oregon and University of Rochester discovered a compound that reverses genetic defects in RNA leading to type 1 myotonic dystrophy. The compound, pentamidine, disrupts complexes formed by expanded repeats and protein molecules, allowing proper splicing errors to be rescued.
Mutations in the PTRF gene have been found to cause a form of muscular dystrophy with generalized lipodystrophy. The disease is characterized by progressive skeletal muscle weakness and deficiency of caveolin-3 protein.