Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients.
basic_science · Level V
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- Record sourced from PubMed, PMID 10944225.
- Also identified by PMC identifier 16909.
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Abstract
Mononuclear cells from peripheral blood of thalassemic patients were treated with morpholino oligonucleotides antisense to aberrant splice sites in mutant beta-globin precursor mRNAs (pre-mRNAs). The oligonucleotides restored correct splicing and translation of beta-globin mRNA, increasing the hemoglobin (Hb) A synthesis in erythroid cells from patients with IVS2-654/beta(E), IVS2-745/IVS2-745, and IVS2-745/IVS2-1 genotypes. The maximal Hb A level for repaired IVS2-745 mutation was approximately 30% of normal; Hb A was still detectable 9 days after a single treatment with oligonucleotide. Thus, expression of defective beta-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.
Medical subject headings
- Erythrocytes
- Genetic Therapy
- Hemoglobin A
- beta-Thalassemia