Muscle stem cells enable our muscle to build up and regenerate over a lifetime through exercise. But if certain muscle genes are mutated, the opposite occurs. In patients suffering from muscular dystrophy, the skeletal muscle already starts to weaken in childhood. Suddenly, these children are no longer able to run, play the piano or climb the stairs, and often they are dependent on a wheelchair by the age of 15. Currently, no therapy for this condition exists.
“Now, we are able to access these patients’ gene mutations using CRISPR-Cas9 technology,” explains Professor Simone Spuler, head of the Myology Lab at the Experimental and Clinical Research Center (ECRC), a joint institution of the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité — Universitätsmedizin Berlin. “We care for more than 2000 patients at the Charité outpatient clinic for muscle disorders, and quickly recognized the potential of the new technology.” The researchers immediately started working with some of the affected families, and have now presented their results in the journal JCI Insight. In the families studied, the parents were healthy and had no idea they possessed a mutated gene. The children all inherited a copy of the disease mutation from both parents.
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