Duchenne muscular dystrophy. Gene therapy achieves restoring the production of dystrophin in affected mouse
Duchenne muscular dystrophy (DMD) is a hereditary potentially fatal disease as it severely affects the muscles. It occurs in 1 in every 5000 newborn males and is due to a genetic defect in the production of dystrophin, a protein found in skeletal and cardiac muscle. See our post about another possible treatment HERE.
Scientists are trying to treat this disease with gene therapy, by transferring dystrophin sequences to the affected muscles. However, the trials conducted to this effect have presented numerous problems, not least of which is the induction of an immune response in the recipients against the dystrophin sequence transferred to the muscle, and even against the viruses used as vectors.
To try to circumvent this immune response, a team of researchers recently proposed immunizing a mouse model of DMD that lacks dystrophin with a vaccine containing microdystrophin, which is approximately one third the size of dystrophin, but which nevertheless restores some muscle function.
One week after the gene therapy, the authors injected the vaccine into the quadriceps muscle once weekly for 32 weeks, thereby restoring the production of dystrophin in the affected mouse.
Additional long-term studies are undoubtedly required to confirm the efficacy of the vaccine, but the above findings suggest the potential to improve the outcomes of gene therapy trials in patients with DMD, which is certainly a hopeful possibility for treating patients with this serious disease.