Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • Researchers find animal model for understudied type of muscular dystrophy
    An animal research model has been developed for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential therapies for FSHD.
  • New hope in fight against muscular dystrophy
    Hope for those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short, can be gained by new research. Duchenne muscular dystrophy results from a lack, or impaired function, of the protein dystrophin, a major component of muscles. Dystrophin plays a significant role in, among other things, cardiovascular functioning.
  • Missing protein restored in patients with muscular dystrophy
    A research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy, a scientific first. The team has offered a proof-of-principle study and restored the missing protein in skeletal muscle of patients with muscular dystrophy. Three patients carrying a dysferlin mutation received a single systemic dose of a proteasome inhibitor. After only a few days the patients’ musculature produced the missing dysferlin protein at levels that could be therapeutically effective.
  • Gene therapy protects mice from lethal heart condition, researchers find
    A new gene therapy has been shown to protect mice from a life-threatening heart condition caused by muscular dystrophy. About one in 3,500 children, mostly boys, are born with Duchenne muscular dystrophy (DMD). They experience a progressive wasting away of muscles, starting in the legs and pelvis. Children with DMD have difficulty walking, and most need wheelchairs by age 12.
  • New gene editing method shows promising results for correcting Muscular Dystrophy
    A new gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD) has been successful in a mouse model of the condition. Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in DNA, allowing the body's DNA repair mechanisms to replace it with a normal copy of the gene. The benefit of this approach over other gene therapy techniques is that the new method can permanently correct the 'defect' in a gene rather than just transiently adding a 'functional' one.
  • Discovery of new form of dystrophin protein could lead to therapy for some Duchenne muscular dystrophy patients
    Scientists have discovered a new form of dystrophin, a protein critical to normal muscle function, and identified the genetic mechanism responsible for its production. Studies of the new protein isoform suggest it may offer a novel therapeutic approach for some patients with Duchenne muscular dystrophy, a debilitating neuromuscular condition that usually leaves patients unable to walk on their own by age 12.
  • Uncovering deletions, duplications in the exome can help pinpoint cause of unexplained genetic diseases
    Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and that this can directly impact clinical management, researchers say. Copy number variants, major genomic deletions or duplications, can contribute to a number of diseases including blindness, deafness, a congenital form of muscular dystrophy, a neonatal-onset metabolic disorder, and an inherited disorder of the immune system, they say.
  • Common drug restores blood flow in deadly form of muscular dystrophy: Results from 10-patient case study
    Researchers have found that a commonly prescribed drug restores blood flow to oxygen-starved muscles of boys with Duchenne muscular dystrophy, a genetic muscle-wasting disease that rarely is seen in girls but affects one in 3,500 male babies, profoundly shortening life expectancy. It is the most common fatal disease that affects children.
  • New knowledge about muscular dystrophy uncovered
    A previously unknown function of a cellular enzyme that can disperse toxic aggregates in the cells of patients with muscular dystrophy has been uncovered by researchers. The most common form of muscular dystrophy among adults is dystrophia myotonica type 1 (DM1), where approximately 1 in every 8000 is affected by the disease. The severity of the disease varies from mild forms to severe congenital forms. It is dominantly inherited and accumulates through generations, gaining increased severity and lowered age of onset.
  • Regenerating muscle in Duchenne muscular dystrophy: Age matters
    Novel cellular and molecular elements of muscle repair have been revealed by researchers. A new study explains how drugs can induce regeneration, while preventing fibrosis and fat deposition, in dystrophic muscle at early stages of Duchenne muscular dystrophy, an incurable muscle-wasting disease.
  • Inherited muscle diseases: 'Sunday driver' gene headed the wrong way
    Skeletal muscle cells with unevenly spaced nuclei, or nuclei in the wrong location, are telltale signs of inherited muscle diseases. Scientists now report on findings from research to determine what goes wrong during myogenesis, the formation and maintenance of muscle tissue, to produce these inherited muscle diseases.
  • History made with first small LVAD implant for young muscular dystrophy patient
    “Today, we’re going to make history,” said 18-year-old Eric Ramos on the day doctors operated on his ailing heart. Eric, who has Duchenne muscular dystrophy, is one of only three patients in the United States with the condition to receive a battery-operated left ventricular assist device (LVAD) to keep his weakening heart pumping blood through his body.
  • Nanoparticles treat muscular dystrophy in mice
    Researchers have demonstrated a new approach to treating muscular dystrophy. Mice with a form of this muscle-weakening disease showed improved strength and heart function when treated with nanoparticles loaded with rapamycin, an immunosuppressive drug recently found to improve recycling of cellular waste.
  • Myotonic dystrophy disrupts normal control of gene expression in heart
    Disruption of a transcription network controlled by MEF2 in heart tissue of people with myotonic dystrophy type 1 affects activity of the minute bits of genetic material called microRNAs responsible for fine-tuning expression of proteins.
  • Scientists uncover most detailed picture yet of muscular dystrophy defect then design targeted new drug candidates
    Scientists have revealed an atomic-level view of a genetic defect that causes a form of muscular dystrophy, myotonic dystrophy type 2, and have used this information to design drug candidates with potential to counter those defects—and reverse the disease.