Giuseppina LacerraHalina SierakowskaClementina CarestiaSuthat FucharoenJames SummertonDwight WellerRyszard KoleThe University of North Carolina at Chapel HillInstitute of Genetics and Biophysics Adriano Buzzati TraversoInstitute of Biochemistry and Biophysics of the Polish Academy of SciencesMahidol UniversityGene ToolsAVI BioPharma Incorporated2018-09-072018-09-072000-08-15Proceedings of the National Academy of Sciences of the United States of America. Vol.97, No.17 (2000), 9591-9596002784242-s2.0-0034662881https://repository.li.mahidol.ac.th/handle/20.500.14594/26371Mononuclear cells from peripheral blood of thalassemic patients were treated with morpholino oligonucleotides antisense to aberrant splice sites in mutant β-globin precursor mRNAs (pre- mRNAs). The oligonucleotides restored correct splicing and translation of β-globin mRNA, increasing the hemoglobin (Hb) A synthesis in erythroid cells from patients with IVS2-654/β(E), IVS2-745/IVS2-745, and IVS2-745/IVS2-1 genotypes. The maximal Hb A level for repaired IVS2-745 mutation was ≃30% of normal; Hb A was still detectable 9 days after a single treatment with oligonucleotide. Thus, expression of defective β-globin genes was repaired and significant level of Hb A was restored in a cell population that would be targeted in clinical applications of this approach.Mahidol UniversityMultidisciplinaryArticleSCOPUS10.1073/pnas.97.17.9591