Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • 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.
  • Step closer to muscle regeneration
    Muscle cell therapy to treat some degenerative diseases, including Muscular Dystrophy, could be a more realistic clinical possibility, now that scientists have found a way to isolate muscle cells from embryonic tissue.
  • Protein illustrates muscle damage
    Regardless of the way in which muscle was damaged, either through trauma or disease, the protein called Xin was strongly correlated to the degree of damage.
  • Muscle built in diseased mice: Human muscle cells created in a dish
    Skeletal muscle has proved to be very difficult to grow in patients with muscular dystrophy and other disorders that degrade and weaken muscle. Researchers now report boosting muscle mass and reversing disease in a mouse model of Duchenne muscular dystrophy, using a "cocktail" of three compounds identified through a new rapid culture system. Adding the same compounds to stem cells derived from patients' skin cells, they then successfully grew human muscle cells in a dish.
  • Researchers discover new path to address genetic muscular diseases
    For decades, scientists have searched for treatments for myopathies -- genetic muscular diseases such as muscular dystrophy and ALS, also called Lou Gehrig's disease. Now, an interdisciplinary team of researchers has discovered a new avenue to search for treatment possibilities.
  • New knowledge about serious muscle disease
    Recent research sheds light on previously unknown facts about muscular dystrophy at molecular level. The breakthrough is hoped to improve future diagnosis and treatment of the disease. Researchers have developed a method that will make it easier to map the proteins that have an important kind of sugar monomer, mannose, attached. This is an important finding, as mannose deficiency can lead to diseases such as muscular dystrophy.
  • Researchers identify way to increase gene therapy success
    Scientists have found a way to overcome one of the biggest obstacles to using viruses to deliver therapeutic genes: how to keep the immune system from neutralizing the virus before it can deliver its genetic payload.