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Researchers identify new function for protein missing in Duchenne muscular dystrophy
August 04, 2009Findings will hopefully lead to therapies to combat the disease
Researchers at the University of Minnesota and National Institutes of Health have identified a new function for the protein missing in people with the most common and ultimately lethal form of childhood muscular dystrophy.
Patients with Duchenne muscular dystrophy lack the protein dystrophin, which causes their muscles to become weak and eventually die. Since its discovery in 1987, research has shown that dystrophin protects muscle cells by directly connecting to two of the three filament types that give cells their shape and durability. The new study demonstrates that dystrophin also directly links to the third structural filament type named microtubules. Microtubules form a highly ordered lattice in muscle, and the new study finds that microtubules become disorganized when dystrophin is missing.
"It's remarkable that scientists have been intensively studying dystrophin for more than 20 years, yet we continue to identify new features that better define its important contribution to healthy muscle." said James Ervasti, Ph.D., a professor in the Department of Biochemistry, Molecular Biology & Biophysics, who directed the investigation.
The new findings suggest that loss of microtubule organization might contribute to the devastating symptoms of Duchenne muscular dystrophy, information that will hopefully lead to the development of therapies to combat the disease. The study appears online Aug. 3, 2009 and will be published in the Aug. 10 issue of The Journal of Cell Biology.
University of Minnesota
"It's remarkable that scientists have been intensively studying dystrophin for more than 20 years, yet we continue to identify new features that better define its important contribution to healthy muscle." said James Ervasti, Ph.D., a professor in the Department of Biochemistry, Molecular Biology & Biophysics, who directed the investigation.
The new findings suggest that loss of microtubule organization might contribute to the devastating symptoms of Duchenne muscular dystrophy, information that will hopefully lead to the development of therapies to combat the disease. The study appears online Aug. 3, 2009 and will be published in the Aug. 10 issue of The Journal of Cell Biology.
University of Minnesota
Muscular Dystrophy Current Events and Muscular Dystrophy News RSSTreatment to improve degenerating muscle gains strength
A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.
Possible help in fight against muscle-wasting disease
A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.
Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice
An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan.
To regenerate muscle, cellular garbage men must become builders
For scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, what seemed like a disappointing result turned out to be an important discovery.
Zoo volunteers help explain mysteries of the genome
As the University of Leicester approaches the 25th anniversary of the discovery of DNA fingerprinting (September 10), Leicester geneticists interested in a particular type of DNA are receiving some help from an unusual band of assistants.
Small molecule inhibits pathology associated with myotonic dystrophy type 1
Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy.
Sticky protein helps reinforce fragile muscle membranes
A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.
Stem cell surprise for tissue regeneration
Scientists working at the Carnegie Institution's Department of Embryology, with colleagues, have overturned previous research that identified critical genes for making muscle stem cells.
Researchers make progress toward early identification of muscular dystrophy
The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.
Jumping genes discovery 'challenges current assumptions'
Jumping genes do most of their jumping, not during the development of sperm and egg cells, but during the development of the embryo itself.
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