In the animal model of X-linked myotube myopathy, the scientists restored the muscle function of the animals through gene therapy and greatly extended the lifespan of these animals.
X-linked myotubular myopathy is a fatal congenital pediatric disease. According to statistics, one in every 50,000 boys suffers from this disease. Children with this myopathic myopathy are very weak, not only with skeletal muscle weakness, but also with severe breathing difficulties. Surviving children may need the help of strong stents, gastric tube feeding and artificial respiration devices. There is currently no effective treatment for this disease.
Now, researchers have demonstrated in small and large animal models that gene therapy can improve muscle strength, indicating that gene therapy is expected to be used to treat this catastrophic disease. The study was published in the journal Science Translational Medicine on January 22.
The researchers injected mice and dogs with AAV produced by Généthon. Studies have shown that the muscle strength of these animals has been greatly improved, and the muscle structure at the micro level has been corrected. As a result, the life span of the two animals has been significantly extended. More importantly, the researchers did not observe any toxicity or immune response in dogs.
The above results demonstrate the effectiveness of gene replacement therapy for myotube myopathy in animal models, and lay an important foundation for clinical trials.
The co-senior author of the article, Alan H. Beggs of Boston Children's Hospital, has conducted years of research on MTM1 gene mutations. He once published an article pointing out that replacing the missing myosin protein can effectively improve muscle contraction.
On this basis, Professor Martin K. Childers of the University of Washington and colleagues performed gene therapy using the adenovirus vector provided by Généthon. This vector is responsible for delivering the alternative MTM1 gene to the cell. The researchers used two animal models, mice and dogs with MTM1 mutations, of which dog MTM1 mutations occur naturally. These mutant animals are very weak, have a short life span, and behave very similarly to patients with myotubular myopathy.
"For hereditary myopathy, this achievement is very important," Professor Childers said. "Our research shows that the two dogs receiving adenovirus gene therapy are almost completely normal, and even at the microscopic level, they basically show no symptoms of the disease."
The researchers used four years to confirm the effectiveness of gene therapy for this hereditary myopathy. Now, they can finally start clinical trials on this basis. This research has brought new hope to cure X-linked myotube myopathy.
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