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First demonstration of muscle restoration in an animal model of Duchenne muscular dystrophy
April 23, 2007Implications for treating many types of genetic diseases
PHILADELPHIA — Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne's muscular dystrophy (DMD). The research appears ahead of print in an advanced online publication of Nature.
"This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation," says senior author H. Lee Sweeney, PhD, chair of the Department of Physiology at Penn. This genetic flaw causes from 5 to 15 percent (and in a few instances up to 70 percent) of individual cases of most inherited diseases, including DMD, cystic fibrosis, and hemophilia.
The new drug, developed by the South Plainfield, NJ-biotech firm and called PTC124, binds to the ribosome, a cellular component where the genetic code is translated into proteins, one amino acid at a time. The drug allows the ribosome to read through a mistake in the genetic code called a premature stop codon in order to properly make whole proteins.
In DMD, patients are missing dystrophin, a protein that helps keep muscle cells intact. About 15 percent of DMD patients do not make dystrophin because of the mutation. DMD eventually affects all voluntary muscles, as well as heart and breathing muscles.
PTC124 attaches to ribosomes in all cell types within the MD mouse model, overriding the mutation in the dystrophin gene that tells it to halt production of the protein. Instead of stopping, the full-length dystrophin protein is made. The drug enables enough protein to be made to correct defects in the muscle of the DMD mouse, and at the same time the drug does not prevent the ribosome from reading correct "stop" signals in the genetic code to make other necessary proteins.
"Enough dystrophin accumulated in the muscles of the MD mice so that we could no longer find defects in the muscles when we examined them," says Sweeney. "For all intents and purposes the disease was corrected by treatment with PTC124." The drug allowed dystrophin to be made in cells in which it was previously absent, to be delivered to the proper location at the cell membrane, and to induce restoration of muscle function in rodent muscles.
University of Pennsylvania School of Medicine
The new drug, developed by the South Plainfield, NJ-biotech firm and called PTC124, binds to the ribosome, a cellular component where the genetic code is translated into proteins, one amino acid at a time. The drug allows the ribosome to read through a mistake in the genetic code called a premature stop codon in order to properly make whole proteins.
In DMD, patients are missing dystrophin, a protein that helps keep muscle cells intact. About 15 percent of DMD patients do not make dystrophin because of the mutation. DMD eventually affects all voluntary muscles, as well as heart and breathing muscles.
PTC124 attaches to ribosomes in all cell types within the MD mouse model, overriding the mutation in the dystrophin gene that tells it to halt production of the protein. Instead of stopping, the full-length dystrophin protein is made. The drug enables enough protein to be made to correct defects in the muscle of the DMD mouse, and at the same time the drug does not prevent the ribosome from reading correct "stop" signals in the genetic code to make other necessary proteins.
"Enough dystrophin accumulated in the muscles of the MD mice so that we could no longer find defects in the muscles when we examined them," says Sweeney. "For all intents and purposes the disease was corrected by treatment with PTC124." The drug allowed dystrophin to be made in cells in which it was previously absent, to be delivered to the proper location at the cell membrane, and to induce restoration of muscle function in rodent muscles.
University of Pennsylvania School of Medicine
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.
Researchers identify new function for protein missing in Duchenne muscular dystrophy
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.
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.
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