Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases.
Rare diseases can be caused by genetic mutations that disrupt normal pre-mRNA splicing. Antisense oligonucleotide treatment to the splicing thus has therapeutic potential for many rare diseases. In this review we will focus on the state of the art on exon skipping using antisense oligonucleotides as a potential therapy for rare genetic diseases, outlining how this versatile approach can be exploited to correct for different mutations.
Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
Marcel
M
Veltrop
Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Electronic address: a.m.rus@lumc.nl.
Annemieke
A
Aartsma-Rus
D000818:Animals; D005091:Exons; D055785:Gene Knockdown Techniques; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000628:therapy; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000628:therapy; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000628:therapy; D009221:Myositis Ossificans / Q000235:genetics / Q000628:therapy; D016376:Oligonucleotides, Antisense / Q000235:genetics*; D034622:RNA Interference; D012326:RNA Splicing; D024801:Tauopathies / Q000235:genetics / Q000628:therapy
D016376:Oligonucleotides, Antisense
Antisense oligonucleotides; Exon skipping; Rare disease; Splicing