Although the genetic cause of DMD has been known for nearly 30 years, there are no treatments that can cure the condition. Duchenne muscular dystrophy breaks down muscle fibers and replaces them with fibrous and/or fatty tissue causing the muscle to gradually weaken.
DMD affects an estimated 1 in 3,600,000 male births in the United States, according to the Centers for Disease Control (CDC). Left untreated, those with DMD eventually require use of a wheelchair between age 8 and 11, and have a life expectancy of 25 years. Initial symptoms include difficulty running and jumping, and delays in speech development. DMD can be detected through high levels of a protein called creatine kinase as it leaks into the blood stream, and is confirmed by genetic testing.
Genome editing through the CRISPR/Cas9 system is not currently feasible in humans. However, it may be possible, through advancements in technology, to use this technique to develop therapies for DMD in the future, Dr. Olson said.
"At the moment, we still need to overcome technical challenges, in particular to find better ways to deliver CRISPR/Cas9 to the target tissue and to scale up," Dr. Olson said. "But in the future we might be able to use this technique therapeutically, for example to directly target and correct the mutation in muscle stem cells and muscle fibers."
Added Chengzu Long, a graduate student in the Olson lab: "We are working on a more clinically feasible method to correct mutations in adult tissues, and have already made some progress."
The research, published online in the journal Science, is the inaugural paper from UT Southwestern's newly established Hamon Center for Regenerative Science and Medicine, made possible earlier this year by a $10 million endowment gift from the Hamon Charitable Foundation. The Center's goal is to understand the basic mechanisms for tissue and organ formation, and then
|Contact: Russell Rian|
UT Southwestern Medical Center