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Current Muscular Dystrophy News and Events, Muscular Dystrophy News Articles.
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New treatment for common form of muscular dystrophy shows promise in cells, animals
Researchers have designed a potential new treatment for one of the most common forms of muscular dystrophy, according to a new study published today in the Proceedings of the National Academy of Sciences. Toshifumi Yokota, professor of medical genetics at the University of Alberta, led a team from Canada and the U.S. to create and test synthetic DNA-like molecules that interfere with the production of a toxic protein that destroys the muscles of people who have facioscapulohumeral muscular dystrophy (FSHD). (2020-06-29)

New treatment method for Alport Syndrome uses antisense oligonucleotides
A multi-institutional research group including Kobe University researchers has succeeded in developing an exon-skipping therapy using nucleic-acid therapeutics for Alport syndrome, an incurable kidney disease that can progress to renal failure. Disease model mice were found to be completely responsive to the treatment. It is hoped that these research achievements can contribute greatly towards the development of the world's first specialized treatment method for Alport syndrome. (2020-06-24)

New structural 'map' solves mysteries of gigantic gene regulator
Structural biology has been used to 'map' part of a protein called SMCHD1, explaining how some changes in SMCHD1 cause certain developmental and degenerative conditions. Publishing in the journal Science Signaling, the Walter and Eliza Hall Institute team revealed the structure of the portion of the SMCHD1 protein that is crucial to its function in 'switching off' genes. Inherited mutations in this part of SMCHD1 have been linked to a developmental disorder and a form of muscular dystrophy. (2020-06-17)

First report of systemic delivery of micro-dystrophin gene therapy in children with DMD
Researchers from Nationwide Children's Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy (DMD) -- and initial findings suggest that the therapy can provide functional improvement that is greater than that observed under the standard of care. (2020-06-15)

Treat early or wait? Experts ponder best way to manage milder forms of spinal muscular atrophy
The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial. Now, in a report published in the Journal of Neuromuscular Diseases, German researchers argue for an earlier start of treatment to prevent permanent nerve damage, challenging recommendations originally proposed by a group of American experts that suggests a strict follow-up strategy for children expected to have less severe disease. (2020-06-11)

The death marker protein cleans up your muscles after exercise
Researchers at the University of Copenhagen's Department of Nutrition, Exercise and Sports have demonstrated that physical activity prompts a clean-up of muscles as the protein Ubiquitin tags onto worn-out proteins, causing them to be degraded. This prevents the accumulation of damaged proteins and helps keep muscles healthy. (2020-05-28)

Restoring nerve-muscle communication in ALS
A new study finds that restoring the protein SV2 in a genetic form of ALS can correct abnormalities in transmission and even prevent cells from dying, providing a new target for future therapies. (2020-05-28)

A natural amino acid could be a novel treatment for polyglutamine diseases
Researchers from Osaka University, National Center of Neurology and Psychiatry, and Niigata University identified the amino acid arginine as a potential disease-modifying drug for polyglutamine diseases, including familial spinocerebellar ataxia and Huntington disease. Using various mice models of polyglutamine diseases, they showed that arginine prevents polyglutamine protein aggregation, improves motor function and suppresses neurodegeneration of mice. The results of this study could facilitate the clinical use of arginine for polyglutamine diseases that are, to date, incurable. (2020-05-25)

Researchers identify therapeutic targets to prevent cancer-associated muscle loss
Researchers at the University of Nebraska Medical Center have identified a key cell signaling pathway that drives the devastating muscle loss, or cachexia, suffered by many cancer patients. The study, which will be published May 22 in the Journal of Experimental Medicine, suggests that targeting this pathway with a drug already in phase 2 clinical trials for diabetes could prevent this syndrome. (2020-05-22)

Gene therapy in mice builds muscle, reduces fat
Researchers at Washington University School of Medicine in St. Louis found that gene therapy in mice helped build strength and significant muscle mass quickly, while reducing the severity of osteoarthritis. The gene therapy also prevented obesity, even when the mice were fed a high-fat diet. (2020-05-08)

Scientists edge closer to treatment for myotonic dystrophy
Scientists at the University of Nottingham have taken a step closer towards developing a treatment for the long-term genetic disorder, myotonic dystrophy. (2020-04-29)

Substituting the next-best protein
Children born with Duchenne muscular dystrophy have a mutation in the X-chromosome gene that would normally code for dystrophin, a protein that provides structural integrity to skeletal muscles. The loss of this protein causes severe symptoms, including deteriorating muscle strength beginning around the age of four. While there is no cure, a promising area of research has developed around the protein utrophin, which is ~ 80% identical to dystrophin and even takes its place early during muscle development. (2020-04-24)

Russian scientists has developed and introduced new laser method for cataract surgery
Scientists from ITMO and the S.N. Fyodorov Eye Microsurgery Complex came up with a technology where a laser is used both to destroy the clouded eye lens and to stimulate the regeneration of adjacent tissue. (2020-04-07)

One size does not fit all: Not all men idolize Western ideals of muscularity
UK researchers reported that men in Uganda and Nicaragua were generally less hung up about their body image and cared less about pursuing a muscular physique than British men. The study employed new body-imaging technology and machine learning to understand different cultural attitudes around the drive toward ideals of muscularity. Understanding variation between groups is important to ensure any strategies or interventions addressing negative behaviors are tailored to a specific cultural context. (2020-04-03)

Researchers reverse muscle fibrosis from overuse injury in animals, hope for human trials
High-force, high-repetition movements create microinjuries in muscle fibers. Muscle tissue responds by making repairs. But over time, with repetition of injury, healing capacity becomes overwhelmed, and microinjuries progress to fibrosis. Fibrosis weakens muscles and can put pressure on nerves, causing pain. Long thought to be irreversible, new research by Lewis Katz School of Medicine scientists shows for the first time in animals that it may be possible to undo fibrotic damage and restore muscle strength. (2020-03-30)

Experimental model mimics early-stage myogenic deficit in boys with DMD
An experimental model of severe Duchenne muscular dystrophy that experiences a large spike in TGFβ activity after muscle injury shows that high TGFβ activity suppresses muscle regeneration and promotes fibroadipogenic progenitors, Children's National Hospital researchers find. (2020-03-26)

For clogged and hardened hearts, a mussel is the solution
Prof. Hyung Joon Cha and his research team developed a stem cell therapy on myocardial infarction, using proteins that can be found in mussels, mussel adhesive proteins. (2020-03-25)

Using CRISPR to find muscular dystrophy treatments
A study from Boston Children's Hospital used CRISPR-Cas9 to better understand facioscapulohumeral muscular dystrophy (FSHD) and explore potential treatments by systematically deleting every gene in the genome. Several 'hits' enabled muscle cells to stay alive and revealed pathways that could potentially be targeted with drugs. (2020-03-25)

Muscle stem cells compiled in 'atlas'
A team of Cornell researchers led by Ben Cosgrove, assistant professor in the Meinig School of Biomedical Engineering, used a new cellular profiling technology to probe and catalog the activity of almost every kind of cell involved in muscle repair. They compiled their findings into a 'cell atlas' of muscle regeneration that is one of the largest datasets of its kind. (2020-03-10)

Huntington's disease-causing DNA repeat mutations reversed in the lab
An international team of researchers identifies a compound that corrects genetic abnormalities involved in the onset and progression of Huntington's disease for which there is no definitive treatment. They successfully reversed disease-causing DNA expansion mutations with no off-target effects in the lab. They hope that their discovery may help treat other DNA repeat diseases like myotonic dystrophy. (2020-02-27)

Team deciphers how myotonic dystrophy generates lethal heart dysfunctions
Roughly 80% of people with myotonic dystrophy -- a common form of muscular dystrophy -- experience dangerous heart ailments, and heart rhythm defects are the second-leading cause of death in those with the condition. In a new study, researchers traced the molecular events that lead to heart abnormalities in myotonic dystrophy and recreated the disease in a mouse model. (2020-02-27)

New CRISPR base-editing technology slows ALS progression in mice
With a new CRISPR gene-editing methodology, scientists from the University of Illinois at Urbana-Champaign inactivated one of the genes responsible for an inherited form of amyotrophic lateral sclerosis -- a debilitating and fatal neurological disease for which there is no cure. The novel treatment slowed disease progression, improved muscle function and extended lifespan in mice with an aggressive form of ALS. (2020-02-26)

Releasing brakes: Potential new methods for Duchenne muscular dystrophy therapies
Testing of small molecules in mouse models for Duchenne muscular dystrophy shows promise for restoration of muscle structure and function. (2020-02-24)

A promising new strategy to help broken bones heal faster
To improve how broken bones heal in people with diabetes, University of Pennsylvania researchers are leading work to develop an affordable oral therapy -- grown in plants. (2020-02-24)

Gene therapy can protect against ALS and SMA-related cell death
Researchers at Karolinska Institutet in Sweden and the University of Milan in Italy have identified a gene in human neurons that protects against the degeneration of motor neurons in the deadly diseases ALS and SMA. Gene therapy in animal models of these diseases was shown to protect against cell death and increase life expectancy. The study is published in the eminent journal Acta Neuropathologica. (2020-02-17)

Duchenne muscular dystrophy diagnosis improved by simple accelerometers
Testing for Duchenne muscular dystrophy can require specialized equipment, invasive procedures and high expense, but measuring changes in muscle function and identifying compensatory walking gait could lead to earlier detection. Researchers present a relative coupling coefficient, which can be used to quantify the factors involved in the human gait and more accurately screen for the disorder. They measured movements of different parts of the body in test subjects, viewing the body as a kinematic chain. (2020-02-11)

ASHG survey finds Americans strongly support human genetics research and potential
Americans are excited and optimistic about genetics and its emerging health applications, per a new survey by ASHG and Research!America. - Most Americans agree genetic knowledge will be important to their health - Americans agree more research is needed and increased federal funding for it is important. - Results confirm importance of confidentiality and security of research data, addressing Americans' views on genetic testing coverage, and highlighting opposition to using genetics for insurance coverage/rate-setting. (2020-01-29)

Researchers identify mechanism that triggers a rare type of muscular dystrophy
A study led by the IBB-UAB has identified the molecular mechanism through which a protein, when carrying genetic mutations associated with a rare disease known as limb-girdle muscular dystrophy, type 1G, accelerates its tendency to form amyloid fibrils and finally triggers the appearance of the disease. The research, published in Cell Reports, will pave the way for the study of possible treatments. (2020-01-29)

Six patients with rare blood disease are doing well after gene therapy clinical trial
UCLA researchers are part of an international team that reported the use of a stem cell gene therapy to treat nine people with the rare, inherited blood disease known as X-linked chronic granulomatous disease, or X-CGD. Six of those patients are now in remission and have stopped other treatments. Before now, people with X-CGD - which causes recurrent infections, prolonged hospitalizations for treatment, and a shortened lifespan -- had to rely on bone marrow donations for a chance at remission. (2020-01-28)

Gene scissors against incurable muscular disease
Duchenne type muscular dystrophy (DMD) is the most common hereditary muscular disease among children, leaving them wheelchair-bound before the age of twelve and reducing life expectancy. Researchers at Technical University of Munich (TUM), Ludwig Maximilian University of Munich (LMU) and the German Research Center for Environmental Health (Helmholtz Zentrum München) have developed a gene therapy that may provide permanent relief for those suffering from DMD. (2020-01-27)

Parents with terminally ill children tend to hide emotional pain from their spouses
A study led by NTU Singapore suggests that Asian parents with terminally ill children found tend to defer discussing their psychological pain with their spouses to protect them from emotional distress. Instead, they prefer to revealed the parents' preference to support each other in pragmatic and solution-oriented ways such as discussing treatment options, arranging care plans and sharing caregiving responsibilities. (2020-01-16)

'PigeonBot's' feather-level insights push flying bots closer to mimicking birds
Birds fly in a meticulous manner not yet replicable by human-made machines, though two new studies in Science Robotics and Science -- by uncovering more about what gives birds this unparalleled control -- pave the way to flying robots that can maneuver the air as nimbly as birds. (2020-01-16)

Heart-function protein may help muscular dystrophy patients live longer
Rutgers-led discovery may help prevent muscular dystrophy-related heart disease, the leading cause of death in patients with Duchenne muscular dystrophy (2020-01-14)

Virus surfaces help MTU engineers study vaccine and gene therapy applications
An isoelectric point is a common way to characterize viruses. However, it's not easy. To improve manufacturing for vaccines and gene therapy, a Michigan Tech team uses surface charge to determine the isoelectric point of different viruses. Specifically, they use a single-particle method with atomic force microscopy (AFM). (2020-01-08)

Evidence of a human segmentation clock reveals how an embryo's vertebrae tick
To reproduce the molecular steps that lead to the proper formation of the human spine, investigators from Brigham and Women's Hospital have developed a model in a dish, allowing them to study just what makes our segmentation clock tick. (2020-01-08)

Cellular clock regulating human spine development
After decades of effort, scientists use induced pluripotent stem cells to model human spine development. Findings provide proof of existence of a segmentation clock in humans guiding spine formation. Work sets stage for better understanding of musculoskeletal and metabolic disorders, including congenital scoliosis, muscular dystrophy and type 2 diabetes. (2020-01-08)

The 'airbag' that protects cells against stress
CNIC scientists have identified the molecular mechanisms that allow our cells to adapt to, protect themselves against, and survive mechanical stress. (2019-12-20)

Strong change of course for muscle research
Scientists have discovered a new subtype of muscle stem cells. These cells have the ability to build and regenerate new muscles, making them interesting targets for the development of gene therapies. (2019-12-20)

Genetic test could aid quest to reveal causes of rare diseases
The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests. (2019-12-17)

Genomic cut and paste using a Class 1 CRISPR system
Repairing faulty genes to prevent and cure disease is something researchers have been working towards for many years. While Class 2 CRISPR systems show great promise as gene editing tools in human cells, a research team led by Osaka University has now demonstrated that a Cas3-based Class 1 CRISPR system may provide a more efficient and safer alternative, carrying out successful repair of a gene mutation responsible for Duchenne muscular dystrophy in patient-derived cells. (2019-12-09)

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