Topic: CTG-repeat expansion

Genetically, myotonic dystrophy type 1 (DM1) is caused by a pathological CTG-repeat expansion in the 3′UTR of the DMPK gene. The mRNA containing the extended repeat is described to be toxic and forms foci with RNA-binding proteins like MBNL1-3. Here, our objective is to employ Cas13b-mediated cleavage to knock down the DMPK in DM1 patient muscle cells. Primary myoblasts from controls and DM1 patients were immortalized using lentiviral transduction of CDK4 and hTERT to generate comparable cell lines. Immortalized myoblasts were transduced with adeno-associated virus (AAV) vectors containing Cas