Contributions of Japanese patients to development of antisense therapy for DMD

Brain and Development

Volumn 38, Issue 1, 2016, Pages 4-9

  Matsuo, Masafumi ^a   Takeshima, Yasuhiro ^b   Nishio, Hisahide ^c  

^a KOBE GAKUIN UNIVERSITY   (Japan)

^b HYOGO COLLEGE OF MEDICINE   (Japan)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Antisense oligonucleotide; Becker muscular dystrophy; Duchenne muscular dystrophy; Exon skipping; Reading frame; Treatment

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; COMPLEMENTARY DNA; CREATINE KINASE; DYSTROPHIN; MESSENGER RNA PRECURSOR; DMD PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANTISENSE THERAPY; ASSISTED VENTILATION; BECKER MUSCULAR DYSTROPHY; BLOOD VESSEL FISTULA; CASE REPORT; CHILD; CONGESTIVE CARDIOMYOPATHY; CONSENSUS SEQUENCE; CREATINE KINASE BLOOD LEVEL; DRUG EFFICACY; DRUG INFUSION; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; ENHANCER REGION; EXON; EXON SKIPPING; EXON SKIPPING THERAPY; FATIGUE; FOLLOW UP; GENE; GENE DELETION; GENE EXPRESSION; HEART PALPITATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JAPANESE (PEOPLE); LIMITED MOBILITY; LYMPHOBLASTOID CELL; MALE; MUSCLE BIOPSY; NONSENSE MUTATION; PHENOTYPE; READING FRAME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SCHOOL CHILD; TRACHEA INNOMINATE ARTERY FISTULA; VENTILATOR; X CHROMOSOME RECESSIVE INHERITANCE; GENE THERAPY; GENETICS; JAPAN; MUSCULAR DYSTROPHY, DUCHENNE; PROCEDURES;

ADOLESCENT; ADULT; CHILD; DYSTROPHIN; EXONS; GENETIC THERAPY; HUMANS; JAPAN; MALE; MUSCULAR DYSTROPHY, DUCHENNE; OLIGONUCLEOTIDES, ANTISENSE;

EID: 84931072604     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.05.014     Document Type: Review

References (31)

1. Eagle M., Baudouin S.V., Chandler C., Giddings D.R., Bullock R., Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002, 12:926-929.
2. Passamano L., Taglia A., Palladino A., Viggiano E., D'Ambrosio P., Scutifero M., et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol 2012, 31:121-125.
3. Hoffman E.P., Brown R., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51:919-928.
4. Kunkel L.M. 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet 2005, 76:205-214.
5. Francke U. 2012 William Allan Award: adventures in cytogenetics. Am J Hum Genet 2013, 92:325-337.
6. Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
7. Seto J.T., Ramos J.N., Muir L., Chamberlain J.S., Odom G.L. Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors. Curr Gene Ther 2012, 12:139-151.
8. Al-Zaidy S., Rodino-Klapac L., Mendell J.R. Gene therapy for muscular dystrophy: moving the field forward. Pediatr Neurol 2014, 51:607-618.
9. O'Brien K.F., Kunkel L.M. Dystrophin and muscular dystrophy: past, present, and future. Mol Genet Metab 2001, 74:75-88.
10. Haas M., Vlcek V., Balabanov P., Salmonson T., Bakchine S., Markey G., et al. European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene. Neuromuscul Disord 2015, 25:5-13.
11. Takeshima Y., Nishio H., Sakamoto H., Nakamura H., Matsuo M. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe. J Clin Invest 1995, 95:515-520.
12. Matsuo M. Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy. Brain Dev 1996, 18:167-172.
13. Hoffman E.P., Connor E.M. Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies. Discov Med 2013, 16:233-239.
14. Mendell J.R., Rodino-Klapac L.R., Sahenk Z., Roush K., Bird L., Lowes L.P., et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 2013, 74:637-647.
15. Voit T., Topaloglu H., Straub V., Muntoni F., Deconinck N., Campion G., et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 2014, 13:987-996.
16. Hoffman E. A rebirth for drisapersen in Duchenne muscular dystrophy?. Lancet Neurol 2014, 13:963-965.
17. Matsuo M., Masumura T., Nakajima T., Kitoh Y., Takumi T., Nishio H., et al. A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene. Biochem Biophys Res Commun 1990, 170:963-967.
18. Flanigan K.M., Dunn D.M., von Niederhausern A., Soltanzadeh P., Gappmaier E., Howard M.T., et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009, 30:1657-1666.
19. Takeshima Y., Yagi M., Okizuka Y., Awano H., Zhang Z., Yamauchi Y., et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 2010, 55:379-388.
20. Shiga N., Takeshima Y., Sakamoto H., Inoue K., Yokota Y., Yokoyama M., et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 1997, 100:2204-2210.
21. Flanigan K.M., Dunn D.M., von Niederhausern A., Soltanzadeh P., Howard M.T., Sampson J.B., et al. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat 2011, 32:299-308.
22. Nishida A., Kataoka N., Takeshima Y., Yagi M., Awano H., Ota M., et al. Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun 2011, 2:308.
23. Pramono Z.A., Takeshima Y., Alimsardjono H., Ishii A., Takeda S., Matsuo M. Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 1996, 226:445-449.
24. Takeshima Y., Wada H., Yagi M., Ishikawa Y., Ishikawa Y., Minami R., et al. Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient. Brain Dev 2001, 23:788-790.
25. Takeshima Y., Yagi M., Wada H., Ishibashi K., Nishiyama A., Kakumoto M., et al. Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. Pediatr Res 2006, 59:690-694.
26. Falzarano M.S., Passarelli C., Ferlini A. Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy. Nucleic Acid Ther 2014, 24:87-100.
27. Kendall G.C., Mokhonova E.I., Moran M., Sejbuk N.E., Wang D.W., Silva O., et al. Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy. Sci Transl Med 2012, 4. 164ra160.
28. Takeshima Y., Yagi M., Matsuo M. Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing. Exon skipping: methods and protocols 2012, 131-141. Human Press, New Jersey. A. Aartsma-Rus (Ed.).
29. Ittig D., Liu S., Renneberg D., Schumperli D., Leumann C.J. Nuclear antisense effects in cyclophilin A pre-mRNA splicing by oligonucleotides: a comparison of tricyclo-DNA with LNA. Nucleic Acids Res 2004, 32:346-353.
30. Goyenvalle A., Griffith G., Babbs A., Andaloussi S.E., Ezzat K., Avril A., et al. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nat Med 2015, 21:270-275.
31. Echigoya Y., Yokota T. Skipping multiple exons of dystrophin transcripts using cocktail antisense oligonucleotides. Nucleic Acid Ther 2014, 24:57-68.