26. Tổng quan liệu pháp Antisense Oligonucleotide (ASO) trong điều trị bệnh β-thalasemia

Abstract

β-thalassemia is an autosomal recessive genetic disease, caused by point mutations or small deletions in the β-globin gene that lead to a reduction or cancellation of the synthesis of the β-globin chain, resulting in an imbalance in the ratio of the α/β-globin chain. Therefore, the ability to target specific mutations will bring positive effects in the treatment of β-thalassemia. Nucleic acid-based therapies including Antisense Oligonucleotides (ASO) therapy can effectively treat of patients with β-thalassemia by ASO entering erythroblast precursor cells, moving to the nucleus and hybridized with abnormal splicing sites to eliminate the pre-mRNA abnormal splicing pattern of β-globin. The result of restored correct splicing is increased expression of β-globin, leading to increased amounts of mature hemoglobin in red blood cells in β-thalassemia. ASO therapy has proven to bring many positive results in patients with β-thalassemia, but further research is needed to ensure safety in using and administering of ASO in treatment of patients with β-thalassemia.