Advances in therapeutic RNA-targeting

New Biotechnology

Volumn 30, Issue 3, 2013, Pages 299-301

  Van Ommen, Gert Jan B ^a   Aartsma Rus, Annemieke ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDES; CLINICAL TRIAL; DOMINANT NEGATIVE; DUCHENNE MUSCULAR DYSTROPHIES; DYSFUNCTIONAL PROTEINS; GENETIC DEFECTS; PROTEIN ISOFORMS; SPINAL MUSCULAR ATROPHY;

NEUROMUSCULAR REHABILITATION; RNA;

PROTEINS;

ANTISENSE OLIGONUCLEOTIDE; DYSTROPHIN; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN 5; ISOPROTEIN; MESSENGER RNA; MYOSTATIN; RNA; STAT3 PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRANSCRIPTION FACTOR; TUMOR NECROSIS FACTOR ALPHA;

ALTERNATIVE RNA SPLICING; ANTISENSE THERAPY; ARTICLE; BECKER MUSCULAR DYSTROPHY; BLOOD BRAIN BARRIER; CELL COMPARTMENTALIZATION; COPY NUMBER VARIATION; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; EXON SKIPPING; GENE DELETION; GENE TARGETING; GENETIC ENGINEERING; GENETIC TRANSCRIPTION; HUMAN; HUNTINGTON CHOREA; IN VIVO STUDY; INDEL MUTATION; MOTONEURON; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROGERIA; PROTEIN BLOOD LEVEL; RNA ANALYSIS; SPINAL MUSCULAR ATROPHY;

ANIMALS; HUMANS; MOLECULAR TARGETED THERAPY; MUSCULAR DYSTROPHY, DUCHENNE; OLIGONUCLEOTIDES, ANTISENSE; RNA, MESSENGER;

EID: 84878107807     PISSN: 18716784     EISSN: 18764347     Source Type: Journal    
DOI: 10.1016/j.nbt.2013.01.005     Document Type: Article

References (37)

1. van Deutekom J.C., van Ommen G.J. Advances in Duchenne muscular dystrophy gene therapy. Nature Reviews Genetics 2003, 4(October (10)):774-783. [review].
2. Spitali P., Aartsma-Rus A. Splice modulating therapies for human disease. Cell 2012, 148(March (6)):1085-1088. [review]. 10.1016/j.cell.2012.02.014.
3. Emery A.E. The muscular dystrophies. Lancet 2002, 359:687-695.
4. Den Dunnen J.T., et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. American Journal of Human Genetics 1989, 45(December (6)):835-847.
5. White S., et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. American Journal of Human Genetics 2002, 71(August (2)):365-374.
6. Prior T.W., et al. Spectrum of small mutations in the dystrophin coding region. American Journal of Human Genetics 1995, 57:22-33.
7. Monaco A.P., et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2(1):90-95.
8. Dunckley M.G., et al. Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Human Molecular Genetics 1998, 7(July (7)):1083-1090.
9. van Deutekom J.C., et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Human Molecular Genetics 2001, 10(July (15)):1547-1554.
10. Aartsma-Rus A., et al. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Human Molecular Genetics 2003, 12(April (8)):907-914.
11. Mann C.J., et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proceedings of the National Academy of Sciences of the United States of America 2001, 98(January (1)):42-47.
12. Lu Q.L., et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nature Medicine 2003, 9(August (8)):1009-1014.
13. Bremmer-Bout M., et al. Targeted exon skipping in transgenic hDMD mice: a model for direct preclinical screening of human-specific antisense oligonucleotides. Molecular Therapy 2004, 10(August (2)):232-240.
14. Lu Q.L., et al. Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles. Proceedings of the National Academy of Sciences of the United States of America 2005, 102(January (1)):198-203.
15. van Deutekom J.C., et al. Local dystrophin restoration with antisense oligonucleotide PRO051. New England Journal of Medicine 2007, 357(December (26)):2677-2686. PubMed PMID: 18160687.
16. Kinali M., et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurology 2009, 8(October (10)):918-928. [erratum in: Lancet Neurol 2009 December;8(12):1083].
17. Goemans N.M., et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. New England Journal of Medicine 2011, 364(April (16)):1513-1522.
18. Cirak S., et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011, 378(August (9791)):595-605.
19. Bürglen L., et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995, 346(July (8970)):316-317.
20. Bertini E., et al. 134th ENMC international workshop: outcome measures and treatment of spinal muscular atrophy. Neuromuscular Disorders 2005, 15(November (11)):802-816.
21. Hua Y., et al. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biology 2007, 5(April (4)):e73.
22. Hua Y., et al. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. American Journal of Human Genetics 2008, 82(April (4)):834-848.
23. Hua Y., et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes and Development 2010, 24(August (15)):1634-1644.
24. Hua Y., et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011, 478(October (7367)):123-126.
25. Osorio F.G., et al. Splicing-directed therapy in a new mouse model of human accelerated aging. Science Translational Medicine 2011, 3(October (106)):106-107.
26. Karras J.G., et al. Deletion of individual exons and induction of soluble murine interleukin-5 receptor-alpha chain expression through antisense oligonucleotide-mediated redirection of pre-mRNA splicing. Molecular Pharmacology 2000, 58(August (2)):380-387.
27. Yilmaz-Elis S., et al. Antisense oligonucleotide mediated exon skipping as a potential strategy for the treatment of a variety of inflammatory diseases such as rheumatoid arthritis. Annals of the Rheumatic Diseases 2012, 71(April (Suppl. 2)):i75-i77.
28. Zammarchi F., et al. Antitumorigenic potential of STAT3 alternative splicing modulation. Proceedings of the National Academy of Sciences of the United States of America 2011, 108(October (43)):17779-17784.
29. Kemaladewi D.U., et al. Cell-type specific regulation of myostatin signaling. FASEB Journal 2012, 26(April (4)):1462-1472. PubMed PMID: 22202673. 10.1096/fj.11-191189.
30. Kemaladewi D.U., et al. Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy. BMC Medical Genomics 2011, 4(April):36. PubMed PMID: 21507246; PubMed Central PMCID: PMC3107769. 10.1186/1755-8794-4-36.
31. Wein N., et al. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Human Mutation 2010, 31(February (2)):136-142.
32. Aartsma-Rus A., et al. Therapeutic exon skipping for dysferlinopathies?. European Journal of Human Genetics 2010, 18(August (8)):889-894. [erratum in: Eur J Hum Genet 2010 September;18(9):1072-3].
33. Evers M.M., et al. Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One 2011, 6(9):e24308.
34. Aartsma-Rus A. The risks of therapeutic misconception and individual patient (n=1) trials in rare diseases such as Duchenne dystrophy. Neuromuscular Disorders 2011, 21(January (1)):13-15.
35. ENCODE Project Consortium, Dunham I., et al. An integrated encyclopedia of DNA elements in the human genome. Nature 2012, 489(September (7414)):57-74.
36. Gerstein M.B., et al. Architecture of the human regulatory network derived from ENCODE data. Nature 2012, 489(September (7414)):91-100.
37. Tilgner H., et al. Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs. Genome Research 2012, 22(September (9)):1616-1625.