Uso de Oligonucleótidos Antisentido tipo Gapmers como estrategia de terapia génica para el tratamiento de LGMDD2.

Abstract

Abstract: This work investigates gene therapy for limb-girdle muscular dystrophy type 2 (LGMDD2) using GapmeRs antisense oligonucleotides. Normal and mutated myoblasts were analysed by qRT-PCR assays at the transcriptional level and western blot at the translational level. No specific treatment for LGMDD2 has been established, although there are some research reports using gene therapy as a tool to modify the expression of the affected gene by means of gapmeR antisense oligonucleotides. In addition, Lysotracker staining was used to observe variations in autophagic activity, indicating an impact on the number of lysosomes. These findings provide detailed insight into the phenotypic and molecular differences between normal and mutated myoblasts, suggesting that GapmeRs could be a promising strategy to treat LGMDD2.