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Updated: Jun 24, 2026
07:02
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
Splicing therapeutics in SMN2 and APOB
Bernard Khoo1, Adrian R Krainer
1University College London Medical School, Department of Endocrinology, Hampstead Campus, London, UK. b.khoo@ucl.ac.uk
Current Opinion in Molecular Therapeutics
|March 31, 2009
Summary
Splicing therapeutics, using antisense oligonucleotides, offer new treatments by modifying RNA splicing. This review covers advances for spinal muscular atrophy and high cholesterol.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- RNA splicing is crucial for gene expression and cellular function.
- Dysregulated splicing contributes to various diseases.
- Antisense oligonucleotide (ASO)-based therapies offer a promising approach to modulate RNA splicing.
Purpose of the Study:
- To review recent advancements in splicing therapeutics.
- To highlight the application of splicing modulation in treating specific diseases.
- To discuss the potential of oligonucleotide-based compounds in RNA-based medicine.
Main Methods:
- Utilizing antisense oligonucleotide (ASO)-based compounds.
- Targeting key elements in pre-mRNA to control nuclear splicing.
- Reviewing preclinical and clinical developments in splicing therapeutics.
Main Results:
- Demonstrated success in correcting survival of motor neuron (SMN)2 pre-mRNA splicing for spinal muscular atrophy (SMA).
- Showcased re-engineering of apolipoprotein B pre-mRNA splicing to reduce circulating cholesterol levels.
- Highlighted the versatility of splicing therapeutics in addressing genetic disorders and metabolic diseases.
Conclusions:
- Splicing therapeutics represent a significant advancement in RNA-based medicine.
- Oligonucleotide-based strategies are effective in correcting disease-causing splicing defects.
- Further research holds promise for expanding the therapeutic applications of splicing modulation.
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