Citation:
Proc Natl Acad Sci U S A 2000 Aug 15;97(17):9591-6
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.
Epub:
Not Epub
Link to Publication:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC16909/
Organism or Cell Type:
cell culture: human mononuclear cells
Delivery Method:
syringe loading