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Related Experiment Video

Updated: Feb 5, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Antisense-Mediated Splice Modulation to Reframe Transcripts.

Matthias Titeux^1,2,3, Sandrina Turczynski^1,2,3, Nathalie Pironon^1,2,3

¹INSERM UMR 1163, Paris, France.

Methods in Molecular Biology (Clifton, N.J.)

|September 2, 2018

Summary

Antisense-based splicing modulation can correct genetic disorders by restoring gene reading frames. This study demonstrates its efficacy in treating recessive dystrophic epidermolysis bullosa by targeting COL7A1 gene mutations.

Keywords:

AON COL7A1 Exon skipping Oligoribonucleotides Recessive dystrophic epidermolysis bullosa Splice modulation

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Published on: October 9, 2016

Area of Science:

Genetics
Molecular Biology
Biochemistry

Background:

Genetic disorders often result from loss-of-function mutations (nonsense, frameshift) disrupting gene open reading frames.
These mutations lead to absent functional proteins via mRNA degradation (nonsense-mediated mRNA decay) or truncated protein degradation.

Purpose of the Study:

To develop and demonstrate the feasibility of antisense-based splicing modulation for treating genetic disorders.
To restore the open reading frame (ORF) and enable functional protein synthesis.

Main Methods:

Developed antisense-mediated exon skipping strategy.
Applied the approach to the COL7A1 gene, encoding type VII collagen, for recessive dystrophic epidermolysis bullosa.
Utilized the gene's structure (118 exons, 83 in-frame) for selective exon removal.

Main Results:

Demonstrated the feasibility and efficacy of antisense-mediated exon skipping.
Showcased the strategy's potential to reframe transcripts by selectively removing mutated exons.
Successfully applied the method to the COL7A1 gene as a model.

Conclusions:

Antisense-based splicing modulation is a viable therapeutic strategy for genetic disorders caused by ORF disruptions.
Exon skipping offers a promising approach to restore protein function in diseases like recessive dystrophic epidermolysis bullosa.
The COL7A1 gene's structure makes it particularly amenable to this exon skipping strategy.