Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine at UCLA, CA 90095-1732, USA.
J Immunol Methods. 2011 Feb 28;365(1-2):1-7. doi: 10.1016/j.jim.2010.12.001. Epub 2010 Dec 13.
Highly complementary antisense morpholino oligonucleotides (AMOs) can bind to pre-mRNA and modulate splicing site selection. This offers a powerful tool to regulate the splicing process, such as correcting subtypes of splicing mutations and nonsense mutations and reprogramming alternative splicing processes. Therefore, AMO-mediated splicing modulation represents an attractive therapeutic strategy for genetic disorders. Primary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic disorders that result from mutations in genes involved in development and maintenance of the immune system. Many of these mutations are splicing mutations and nonsense mutations that can be manipulated by AMOs. This review discusses AMO-mediated splicing modulation approaches and their potential applications in treating PIDs.
高度互补的反义吗啉代寡核苷酸（AMOs）可以与前体 mRNA 结合并调节剪接位点选择。这为调节剪接过程提供了一个强大的工具，例如纠正剪接突变和无义突变的亚型以及重新编程选择性剪接过程。因此，AMO 介导的剪接调节代表了一种有吸引力的治疗遗传疾病的策略。原发性免疫缺陷病（PIDs）是一组异质性遗传疾病，由涉及免疫系统发育和维持的基因中的突变引起。其中许多突变是 AMOs 可以操纵的剪接突变和无义突变。这篇综述讨论了 AMO 介导的剪接调节方法及其在治疗 PID 中的潜在应用。
