MU research team makes breakthrough in treatment for muscular dystrophy

The MU School of Medicine made a breakthrough in research for a treatment for muscular dystrophy that has been more than 10 years in the making.

Dr. Dongsheng Duan and a medical research team in the School of Medicine developed and published a Jan. 13 study on dystrophin gene therapy for the muscular disorder Duchenne Muscular Dystrophy. The breakthrough could lead to human testing of the treatment in the future, Duan said.

DMD is the most severe of the nine genetic disorders, according to the Muscular Dystrophy Associations website. DMD causes muscles to slowly degenerate, leading to muscle weakness and, eventually, complete paralysis and death.

Though women generally carry the disorder, DMD symptoms generally occur in men, the MDA website states. The disorder rarely appears in women and carriers often show no symptoms.

Symptoms, which include difficulty sitting up and ascending stairs, usually begin to show between the ages of 3 and 5. Over time the DMD progresses to paralyze the legs, restricting the patient to a wheel chair, and then paralyzes the rest of the body. The MDA website states, survival into the early 30s is becoming more common, and there are cases of men living into their 40s and 50s.

Patients with DMD have a gene mutation that disrupts the production of dystrophin, a protein essential for muscle cell survival and function, an MU News Bureau press release said. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death.

For the treatment that Duans team developed, a miniaturized form of the dystrophin gene is the key.

Basically, we designed a highly miniaturized dystrophin gene and engineered the microgene into a harmless viral capsid, Dr. Duan said in an email. The vector was then injected into the muscle of a diseased dog and two months after treatment, we examined the results.

The dogs treated did not reject the injected microdystrophin like other subjects in previous studies, the MDAs magazine publication Quest said. In contrast to past studies, the results showed the injected microdystrophin encouraged regular dystrophin production in the muscles.

This is the first demonstration that a microgene can work in a disease muscle of a large mammal, Duan said. This set the foundation to apply a similar approach to treat the disease in human patients.

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MU research team makes breakthrough in treatment for muscular dystrophy