Novel EGFP reporter cell and mouse models for sensitive imaging and quantification of exon skipping

Sci Rep. 2020 Jun 22;10(1):10110. doi: 10.1038/s41598-020-67077-4.

Abstract

Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder caused by nonsense or frameshift mutations in the DMD gene. Among various treatments available for DMD, antisense oligonucleotides (ASOs) mediated exon skipping is a promising therapeutic approach. For successful treatments, however, it is requisite to rigorously optimise oligonucleotide chemistries as well as chemical modifications of ASOs. To achieve this, here, we aim to develop a novel enhanced green fluorescence protein (EGFP)-based reporter assay system that allows us to perform efficient and high-throughput screenings for ASOs. We design a new expression vector with a CAG promoter to detect the EGFP fluorescence only when skipping of mdx-type exon 23 is induced by ASOs. Then, an accurate screening was successfully conducted in C57BL/6 primary myotubes using phosphorodiamidate morpholino oligomer or locked nucleic acids (LNA)/2'-OMe mixmers with different extent of LNA inclusion. We accordingly generated a novel transgenic mouse model with this EGFP expression vector (EGFP-mdx23 Tg). Finally, we confirmed that the EGFP-mdx23 Tg provided a highly sensitive platform to check the effectiveness as well as the biodistribution of ASOs for exon skipping therapy. Thus, the assay system provides a simple yet highly sensitive platform to optimise oligonucleotide chemistries as well as chemical modifications of ASOs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Dystrophin / genetics
  • Exons / genetics*
  • Exons / physiology
  • Female
  • Genes, Reporter / genetics
  • Genetic Therapy / methods*
  • Green Fluorescent Proteins
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Morpholinos / genetics
  • Muscle Fibers, Skeletal / metabolism
  • Muscular Dystrophy, Duchenne / genetics
  • Oligonucleotides / genetics
  • Oligonucleotides, Antisense / metabolism
  • Primary Cell Culture
  • RNA Splicing / genetics
  • RNA Splicing / physiology*

Substances

  • Dystrophin
  • Morpholinos
  • Oligonucleotides
  • Oligonucleotides, Antisense
  • enhanced green fluorescent protein
  • locked nucleic acid
  • Green Fluorescent Proteins