Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy is a disease that is caused by a broken copy of the dystrophin gene. This gene makes dystrophin protein, which is important for healthy muscles. Muscle cells that do not make functional dystrophin will eventually become so weak the child will not be able to walk or stand, and he may eventually have trouble breathing or heart problems. Nearly all people with DMD are male.

Researchers have developed a gene therapy for DMD, using an adeno-associated virus, which does not cause human disease, to deliver a smaller form of the dystrophin gene to the muscle cells. The virus with the gene is called the vector. The normal dystrophin gene is too large to fit inside the virus. Scientists made a smaller version called micro-dystrophin that fits inside the virus and still produces a functional protein.

When giving gene therapy to a child, a large number of vectors are injected through an IV. And we mean a LARGE number. Think more than a million billion. Once inside the body, the vectors travel to the muscle cells. The vectors enter the cells through the cell membrane. Then, the vector travels to the nucleus of the muscle cell and leaves the new functional gene inside the nucleus. The genetic material introduced by the virus does not mix with the genetic material of the child. The new gene inside the nucleus of the muscle cell is then used to make functional proteins.

The goal is to make functional protein so that the muscle cell works properly. The cell will still contain the broken gene and make broken proteins. But it will make enough functional proteins to be a healthier cell. With enough healthy cells, whole muscles become healthier helping kids with DMD stay active and have fewer symptoms.