RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice

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Publisher: National Academy of Sciences
Document Type: Author abstract; Report
Length: 105 words

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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. oligonucleotides |RNA splicing | thalassemia | therapy | morpholino oligomers

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Source Citation   

Gale Document Number: GALE|A193792408