Duchenne muscular dystrophy (DMD) is a muscle degeneration disorder caused by mutations affecting the dystrophin gene. On August 24 in the journal Stem Cell Reports, researchers show how a dual CRISPR RNA method restored dystrophin protein function in induced pluripotent stem cells derived from DMD patients.
This photo shows green dystrophin protein restored by dual-Cas3 in skeletal muscle derived from DMD patient iPSCs. Credit: Akitsu Hotta
The approach worked by removing large sections of the dystrophin gene, allowing the cells to skip faulty or misaligned sections of the genetic code. This yields truncated but still functional proteins for a wide variety of mutation patterns associated with DMD. Due to significant variations in the mutation patterns affecting the dystrophin gene, deleting a small section of the gene can only be used for a limited number of DMD patients. For example, the most common mono-exon skipping of exons 51, 53, and 45 can be applied to 13%, 8%, and 8% of DMD patients, respectively.
To overcome this hurdle, Hotta and his team used CRISPR-Cas3 to induce a deletion of up to 340 kilobases at the dystrophin exon 45-55 region in various DMD mutation patterns. Because it was rare to observe a deletion of more than a hundred kilobases using a single CRISPR RNA—which helps to locate the correct segment of DNA—the researchers used a pair of CRISPR RNAs inwardly sandwiching the target genomic region.
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