Ana Buj Bello's team, a researcher in an Inserm unit at Genethon, the AFM-Telethon laboratory, has made the proof-of-concept of a CRISPR-Cas9 approach in a mouse model of Steinert's myotonic dystrophy, the most common neuromuscular disease in adults. Indeed, thanks to this genome editing approach, the expanded CTG triplet repeat in the DMPK gene, which is responsible for the disease, was "cut" and removed from the gene, and the number of toxic RNA aggregates was decreased in the muscle cells of the tested models. Based on these encouraging results, published in the June 5 issue of Molecular Therapy, the researchers are currently investigating whole body treatment.
* This article was originally published here