Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • Genetic factors that cause muscle weakness, wasting disorder found
    For years, the underlying process that causes a debilitating muscle disorder in infants and young children has been largely unknown. Now, a group of genetics researchers has identified the fundamental mechanism that causes congenital myotonic dystrophy.
  • Designed proteins to treat muscular dystrophy
    The cell scaffolding holds muscle fibers together and protects them from damage. Individuals who suffer from muscular dystrophy often lack essential components in this cell scaffold. As a result, their muscles lack strength and become progressively weaker. A research team has now designed two proteins that stabilize the cell scaffolding link it to the muscle fiber and thereby restore muscle structure and function.
  • Muscle growth finding may assist with cancer treatment
    Researchers have developed a therapeutic approach that dramatically promotes the growth of muscle mass, which could potentially prevent muscle wasting in diseases including muscular dystrophy and cancer.
  • Gene therapy leads to long-term benefits in dog model of devastating childhood disease
    Researchers who previously showed that a gene therapy treatment could save the lives of dogs with a deadly disease called myotubular myopathy — a type of muscular dystrophy that affects the skeletal muscles—have found that the therapy is long-lasting.
  • Why the heart does not repair itself: New insights
    Researchers have discovered a previously unknown connection between processes that keep the heart from repairing itself.
  • One gene closer to regenerative therapy for muscular disorders
    A detour on the road to regenerative medicine for people with muscular disorders is figuring out how to coax muscle stem cells to fuse together and form functioning skeletal muscle tissues. A study now reports scientists identify a new gene essential to this process, shedding new light on possible new therapeutic strategies.
  • 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.