In Duchenne muscular dystrophy (DMD), researchers used a CRISPR-Cas9 technique to correct the deletion of exon 52 of the DMD gene by targeting exon 53 and restoring the open reading frame (ORF) of dystrophin. Injection of the genome editing material:
- induced a 68% restoration of dystrophin in cardiomyocytes derived from induced pluripotent stem cells (iPSCs) from patients,
- ensured dystrophin restoration in all muscle groups (compared to saline injection) three months after intraperitoneal injection into DMD mouse models on postnatal day 4, with the restored dystrophin level sufficient to improve muscle function and reduce muscle damage.
This approach could be used in adult mice, with higher doses of vectors. It could effectively correct the deletion of exon 52, but further studies will be needed to assess its safety.
