Researchers at the University of Missouri, in collaboration with the Johns Hopkins School of Medicine and Duke University, have corrected in mice the genetic mutation causing Duchenne muscular dystrophy. This is a further step towards effective treatment also in human beings.
Duchenne muscular dystrophy is caused by the production of dystrophin. Protein is essential for the development and survival of muscle cells. When it is missing, all the muscles of the body gradually lose their functionality. This applies to both motor and respiratory and cardiac muscles. To avoid all this, the genetic mutation that prevents the production of the protein should be corrected.
The study authors thought of the most efficient way to correct mutated cells. By changing the genes of muscle stem cells, all new cells would be healthy. In this way it would be possible to replace sick muscle cells with as many healthy ones. To test this hypothesis, the researchers tested it on some guinea pigs suffering from dystrophy. First, the researchers treated a healthy muscle using Crispr.
They then transplanted it into an immunodeficient mouse and let it regenerate from its stem cells. In this way they obtained many modified muscle stem cells, proving the feasibility of the first phase. After the first phase, the researchers tested the therapy on sick guinea pigs. They modified the sick stem cells and let the muscles regenerate. The test was successful and the muscles of the guinea pigs began to produce dystrophin. If all this could be reproduced in humans, the dystrophy could be permanently erased.