A CRISPR Gene Editing Technique Could Fix Many of the Mutations Responsible For Duchenne Muscular Dystrophy

CRISPR gene editing technology is still mostly in its infancy, but the new tool is already causing a lot of excitement, particularly in the treatment of genetically-linked diseases. A recent story from Newswise shows that scientists have developed a technique that could repair most of the 3,000 mutations that are responsible for Duchenne muscular dystrophy, for example.
Duchenne muscular dystrophy (DMD) is one of the most severe types of muscular dystrophy. The disease only affects boys and the first signs and symptoms begin to appear at around age four. The disorder is characterized by progressive muscle weakness and wasting that affects the voluntary muscles, particularly around the legs, shoulders, pelvic area, and hips. People with the disease may have deformities such as scoliosis, heart problems, and problems with breathing. Most people lose their walking ability by age 12. Average life expectancy for those affected is 26 years. There is currently no cure for Duchenne muscular dystrophy, with treatment being focused on slowing and reducing the severity of symptoms where possible. To learn more about Duchenne muscular dystrophy, click here.

The CRISPR procedure involves making a single “cut” at specific areas of the patient’s DNA. The technique was first developed at the Utah Southwestern Medical Center. Testing of the procedure has been successful so far, first being used on cells from the hearts of patients. The new procedure offers new hope for people with DMD and allows drug developers to avoid the task of developing molecular therapies for each of the mutations, which would be much more complicated. The procedure is also considered substantially less invasive than other gene-editing techniques. In the test, CRISPR helped bring restore heart functionality back to almost normal levels.

Prior research using an animal model demonstrated the possibility of the new procedure working successfully. The areas that were cut were those parts of the DNA that are associated with the production of dystrophin, the molecule that is altered in DMD. Researchers involved in the study saw the operation as a major advance, and it could offer real hope to people with DMD in a way that no other current treatments can.

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