mRNA-Based Solution for 47, 48, 51, and 52 Dystrophin Exon Deletions: DMD Patient-Donate Primer Cells (In Vitro) and Transgenic Mice Experimental Study (In Vivo)

Background: Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene. DMD is characterized by exon deletions in about 76% of cases, with common deletions in exons 47, 48, 51, and 52. We evaluated the ef-fectiveness of an mRNA-based therapy targeting these exon deletions, which are fre-quently seen in DMD patients. Methods: The current study involved two protocols: 1. applying the therapy to cells from patients diagnosed with DMD, and 2. applying the therapy to genetically modified transgenic mdx/d2 mice. After treatment, dystrophin was detected in all experimental groups. Results: showed that, beyond dystrophin, cell membrane proteins such as sarcoglycan, dystroglycan, and actin was also highly ex-pressed. Behavior tests assessing functional dystrophin demonstrated improved mo-bility, motor skills, walking, resting times, and a lower risk of falling. Conclusions: Our study proved that the mRNA complex successfully produced functional dystrophin in transgenic mdx/d2 mice without causing allergic reactions or damage to the kidney, intestines, muscles, or brain.