Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • Weekly steroids strengthen, repair muscles
    In a surprising finding, weekly doses of glucocorticoid steroids, such as prednisone, help speed recovery in muscle injuries, reports a new study. The weekly steroids also repaired muscles damaged by muscular dystrophy. When given daily over long periods, prednisone can cause muscle wasting. But the once weekly doses of the steroid increased proteins that stimulate muscle repair. The studies were conducted in mice, with broad implications for humans.
  • Gene-editing alternative corrects Duchenne muscular dystrophy
    Using the new gene-editing enzyme CRISPR-Cpf1, researchers have successfully corrected Duchenne muscular dystrophy in human cells and mice in the lab.
  • Small protein is fundamental to muscle formation
    A small protein named Myomixer is essential for the formation of skeletal muscle, researchers have discovered. These findings could eventually help treat genetic diseases such as muscular dystrophy and other myopathies, they say.
  • Molecular structure of the cell nucleoskeleton revealed for the first time
    Using 3-D electron microscopy, structural biologists have succeeded in elucidating the architecture of the lamina of the cell nucleus at molecular resolution for the first time. This scaffold stabilizes the cell nucleus in higher eukaryotes and is involved in organizing, activating and duplicating the genetic material. Diseases such as muscular dystrophy and premature aging, caused by mutations in the lamin gene, the major constituent of the lamina, can now be studied more effectively.
  • 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.