P.289Precise gene editing of LGMD2A causing mutations

Gene editing could be a powerful tool to repair disease-causing mutations in patient-derived primary cells, but precise gene correction remains inefficient. In our study, we aimed to repair mutations in the Calpain 3 (CAPN3) gene, which causes limb girdle muscular dystrophy 2A (LGMD2A) upon loss. CAPN3 is a cysteine-protease predominantly expressed in skeletal muscle tissue. We have human primary muscle stem cells available from 35 patients covering 37 different CAPN3 mutations. 30% of patients carry CAPN3c.550delA in one or both of their alleles causing frame shift.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Muethel, H. Escobar Fernandez, S. Spuler Source Type: research