On May 26 and 27, the XV Annual Meeting of the CIBERER was held in person in Castelldefels. The Neuromuscular Pathology and Ataxias group, directed by Dr. Vílchez, attended this meeting, since it is one of the groups belonging to this consortium, and participated in the results presentation session in the form of oral communication with the title: “ Genetic edition through CRISPR/Cas9 of the TNPO3 mutation that causes Limb-girdle Muscular Dystrophy D2 in a myoblast cell model”.
The presentation was carried out by the predoctoral student Marta Selva Giménez on behalf of the project carried out through the collaboration of the Neuromuscular Pathology and Ataxias group and the Translational Genomics group led by Doctor Rubén Artero. This work has already been presented at other congresses and, as has been mentioned in previous publications, it consists of the genetic edition of the mutation that causes Limb-girdle Muscular Dystrophy type D2 (LGMDD2) in the TNPO3 gene in the first cellular model of the disease through the CRISPR/Cas9 system. This tool can be directed to any part of the genome to edit it at will. The first disease model consists of immortalized primary myoblasts containing the disease-causing mutation.
These primary myoblasts were obtained through a muscle biopsy of an LGMDD2 patient. Thanks to this cellular model, studies of some of the cellular pathways altered by the disease have been carried out and it has been verified that the altered phenotypes were recovered in cells edited with CRISPR. Thanks to these results, the usefulness of the CRISPR/Cas9 tool can be validated and it is expected that it will have clinical utility in the future.