Gene therapy, the use of genetic material to treat a disease or disorder, is making strides in muscular dystrophy. Although the approach is still considered experimental, studies in animal models have shown promising results and clinical trials in humans are underway.
How gene therapy works
Gene therapy has the potential to help people with inherited disorders, in which a gene mutation causes cells to produce a defective protein or no protein at all, leading to disease symptoms.
To deliver the genetic material to the cells, scientists use a tool called a vector. This is typically a virus that has been modified so that it doesn’t cause disease. It is hoped that the vector will carry the therapeutic gene into the cell’s nucleus, where it will provide the instructions necessary to make the desired protein.
Gene therapy to treat Duchenne muscular dystrophy
The most common form of muscular dystrophy, Duchenne muscular dystrophy, is caused by a mutation in the DMD gene, which codes for a protein called dystrophin. Dystrophin is part of a protein complex that strengthens and protects muscle fibers. When the cells don’t have functional dystrophin due to the gene mutation, muscles progressively weaken. Scientists think that supplying a gene that codes for a functional form of dystrophin might be an effective treatment for Duchenne muscular dystrophy.
Using gene therapy to deliver a correct form of the dystrophin gene has been challenging because of the size of the DMD gene, which is the largest gene in the human genome so it does not fit into commonly used vectors.
Scientists are having more success with a shortened version of the DMD gene that produces a protein called micro-dystrophin. Even though it’s a smaller version of dystrophin, micro-dystrophin includes key elements of the protein and is functional.