title: Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine at UCLA, CA 90095-1732, USA. Ldu@mednet.ucla.edu
authors.forename: Liutao
authors.initials: L
authors.lastname: Du
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gatti
mesh_terms: D017398:Alternative Splicing; D018389:Codon, Nonsense; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000628:therapy*; D009154:Mutation; D016376:Oligonucleotides, Antisense / Q000008:administration & dosage / Q000737:chemistry / Q000235:genetics* / Q000627:therapeutic use*; D012322:RNA Precursors / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D012326:RNA Splicing
chemical_list: D018389:Codon, Nonsense; D016376:Oligonucleotides, Antisense; D012322:RNA Precursors; D022821:RNA Splice Sites