Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • Method developed by biomedical scientists could help in treatment of several diseases
    Nonsense-mediated RNA decay (NMD) is a processing pathway in cells that, like a broom, cleans up erroneous RNA. Biomedical scientists report that they have come up with a method in the lab that detects NMD efficiency inside the cell.
  • Genetic study identifies a new form of congenital muscular dystrophy
    A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.
  • Targeted therapy for sleep disorders helps patients with muscular dystrophy
    Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, and many patients with DM1 suffer from various sleep and respiratory disorders. In a new study, researchers found that because there is wide range of sleep problems, treatments do not fit a "one size fits all" model.
  • Gene mutations behind lack of a nose identified
    Researchers have identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems. Mutations in the same gene have previously been associated with a form of muscular dystrophy.
  • Stem cells police themselves to reduce scarring
    Stem cells produce a decoy protein to attenuate growth signals. Artificially regulating this pathway might help keep muscles supple in muscular dystrophy or during normal aging, researchers hope.
  • DNA damage response links short telomeres, heart disorder in Duchenne muscular dystrophy
    Telomeres shorten without cell division in a mouse model of Duchenne muscular dystrophy, new research shows. Subsequent DNA damage responses and mitochondrial dysfunction are likely cause of heart failure.
  • A vitamin could help treat Duchenne muscular dystrophy
    Researchers are working on a new strategy to combat one of the most severe forms of muscular dystrophy. Rather than acting on the defective gene, they are using large doses of a vitamin.
  • Scientists speed up muscle repair
    Athletes, the elderly and those with degenerative muscle disease would all benefit from accelerated muscle repair. When skeletal muscles, those connected to the bone, are injured, muscle stem cells wake up from a dormant state and repair the damage. When muscles age, however, stem cell number and function declines, as do both tissue function and regenerative ability. A new study investigated muscle stem cell pool size. In particular, they asked if stem cell number could be increased, and if there would be any associated functional benefits.
  • Curing inherited disease by running a stop sign
    New insight has been gained into the mechanism of action of the drug ataluren, which is showing promise in treating Duchenne muscular dystrophy and cystic fibrosis.
  • Childhood muscular fitness and adult metabolic syndrome
    About 20-25 percent of adults have the metabolic syndrome and have increased risk of developing both cardiovascular disease and type 2 diabetes. In a new longitudinal study, investigators examined associations between childhood muscular fitness (strength, endurance, and power) and metabolic syndrome -- the latter assessed once they reached adulthood.
  • New views of intracellular channel that controls skeletal muscle
    New details of the structure and function of an intracellular channel that controls the contraction of skeletal muscle have been uncovered by new research. The findings could lead to new treatments for a variety of muscle disorders.
  • Eteplirsen approved in US for treatment of duchenne muscular dystrophy
    The U.S. Food and Drug Administration has decided to grant accelerated approval for eteplirsen, the first disease-modifying drug to treat the most common childhood form of muscular dystrophy.
  • Study could herald new treatment for muscular dystrophy
    New research has shown that the corticosteroid deflazacort is a safe and effective treatment for Duchenne muscular dystrophy. The findings could pave the way for first US-approved treatment for the disease.
  • Helper molecule reverses degeneration of muscle in mouse model of tissue aging, wasting
    Maintaining proper levels of an essential helper molecule is crucial for optimal muscle function. Some athletes are already taking supplements to increase synthesis of this compound, called NAD, with the hopes of reversing the natural decay associated with aging of the mitochondria, the cell's powerhouses. However, this is the first study to directly investigate the consequences of NAD deficiency on muscle function.
  • Gene therapy developed for muscle wasting
    A discovery could save millions of people suffering from muscle wasting disease.