Muscular Dystrophy News -- ScienceDaily

Muscular Dystrophy News -- ScienceDaily
  • Guideline offers direction in genetic testing for certain types of muscular dystrophy
    A new guideline recommends guidance on how doctors should evaluate the full picture—from symptoms, family history and ethnicity to a physical exam and certain lab test results—in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy.
  • Out-of-step cells spur muscle fibrosis in Duchenne Muscular Dystrophy patients
    Like a marching band falling out of step, muscle cells fail to perform in unison in patients with Duchenne muscular dystrophy. Researchers reveal how this breakdown leads to the proliferation of stiff fibrotic tissue within muscles.
  • Researchers discover how circular RNA is created, find link to degenerative disease
    Our genetic information is stored in DNA, tiny strands of nucleic acid that contain instructions for the functioning of our bodies. To express this genetic data, our DNA is copied into RNA molecules, which then translate the instructions into proteins that perform tasks in our cells. In addition to known RNAs, circRNA molecules are abundant, yet little has been known about how they are produced, and next to nothing has been known about the role they play in disease. Now, researchers have discovered how circRNAs are produced.
  • New microscopy technique yields fresh data on muscular dystrophy
    A new microscopy technique yields resolution an order of magnitude better than previously possible. Through this new technique, the researchers showed that dystrophin was responsible for regulating tiny molecular fluctuations in calcium channels while muscles are in use. The discovery suggests that a lack of functional dystrophin alters the dynamics of ion channels -- helping to cause the defective mechanical responses and the calcium imbalance that impair normal muscle activity in patients with muscular dystrophy.
  • Delay in age of walking can herald muscular dystrophy in boys with cognitive delays
    The timing of a toddler's first steps is an important developmental milestone, but a slight delay in walking is typically not a cause of concern by itself. Now a duo of researchers has found that when walking and cognitive delays occur in concert, the combination could comprise the earliest of signals heralding a rare but devastating disorder known as Duchenne muscular dystrophy.
  • Muscular dystrophy: Repair the muscles, not the genetic defect
    A potential way to treat muscular dystrophy directly targets muscle repair instead of the underlying genetic defect that usually leads to the disease, researchers say. Muscular dystrophies are a group of muscle diseases characterized by skeletal muscle wasting and weakness. Mutations in certain proteins, most commonly the protein dystrophin, cause muscular dystrophy.
  • New genetic targets discovered in fight against muscle-wasting disease
    Findings of a new study offer the possibility of developing new ways of tackling an incurable condition known as muscle-wasting disease. To date, only six genes have been linked to the illness. Despite rigorous screening, at least 50% of patients have no detectable mutation in the 6 known genes. Now a breakthrough study has discovered two more genes linked to the disease.
  • Researchers discover key to making new muscles
    Cyclic bursts of a STAT3 inhibitor can replenish muscle stem cells and promote their differentiation into muscle fibers, scientists report. The findings are an important step toward developing and maintaining new muscle to treat muscle diseases.
  • 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.