New understanding of how the alpha-dystroglycan protein is glycosylated (sugar-coated) may have relevance for treating some forms of congenital and limb-girdle muscular dystrophy
Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function.
Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.
Matthew Disney is an associate professor in the Department of Chemistry at the Scripps Research Institute in Jupiter, Fla. He has MDA support to design small molecules that target the toxic RNA that underlies myotonic muscular dystrophy (MMD, also known as DM).
MDA Medical and Science Editor Margaret Wahl talked with Matthew Disney about his work.
The pace of research can seem unreasonably slow; here are a few reasons why
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
Edison drugs target FA, mitochondrial diseases
The biggest problem at an ER may not be the one you go in with, but the one you encounter there
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.
Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.
The study also is recruiting 30 adults with no neuromuscular disease.
Results will be used to identify ways that counselors...
Scientists have identified a protein cluster that patches damaged muscle-fiber membranes in muscular dystrophy.
Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.
The Muscle-Fiber Membrane