RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 19164558.
- Also identified by DOI 10.1073/pnas.0812436106 and PMC identifier 2633555.
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Abstract
Repair of beta-globin pre-mRNA rendered defective by a thalassemia-causing splicing mutation, IVS2-654, in intron 2 of the human beta-globin gene was accomplished in vivo in a mouse model of IVS2-654 thalassemia. This was effected by a systemically delivered splice-switching oligonucleotide (SSO), a morpholino oligomer conjugated to an arginine-rich peptide. The SSO blocked the aberrant splice site in the targeted pre-mRNA and forced the splicing machinery to reselect existing correct splice sites. Repaired beta-globin mRNA restored significant amounts of hemoglobin in the peripheral blood of the IVS2-654 mouse, improving the number and quality of erythroid cells.
Medical subject headings
- Hemoglobins
- Mutation
- RNA Precursors
- Thalassemia