DM1: reducing CTG repeats

The CRISPR/Cas9 system for eliminating abnormal CTG repeats in DM1 is effective in cellular models.

The CRISPR/Cas9 system is a recent approach that cuts DNA at specific locations in the genome, acting like “molecular scissors”. It allows to target a DNA sequence or a gene in a cell to modify, repair or remove it.

A Scottish research team has used this system in mouse cells or patients with DM1, in order to eliminate abnormal CTG repeats of the DMPK gene. This allowed to restore the myogenic capacity of the cells and the splicing defects observed in DM1.

 

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.van Agtmaal EL, André LM, Willemse M, Cumming SA, van Kessel ID, van den Broek WJ, Gourdon G, Furling D, Mouly V, Monckton DG, Wansink DG, Wieringa B.Mol Ther., 2017 (Janv).