2016 / 03

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DOI: 10.24075/brsmu.2016-03-03
Copyright: © 2017 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Analysis of phenotype expressions of deletions in the dystrophin gene in terms of efficiency of exon skipping as a method for treatment of hereditary dystrophinopathies

Zotova ED1,2 , Reshetov DA1 , Zhernovkov VE1 , Vlodavets DV3 , Dimitrieva TV1 , Deykin AV1,2
About authors

1 Marlin Biotech, Moscow, Russia

2 Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia

3 Department of Neurology, Neurosurgery and Medical Genetics, Medical Faculty,
Pirogov Russian National Research Medical University, Moscow, Russia

Correspondence should be addressed: Evgeniya Zotova
ul. Vavilova, d.34/5, Moscow, Russia, 119334; ur.usm.bbf@avotoz

About paper

Acknowledgements: authors thank the Shared Resource Center of the Institute of Gene Biology of Russian Academy of Sciences for the equipment provided for this research.

Received: 2016-06-17 Accepted: 2016-06-24 Published online: 2017-01-05
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  1. van Deutekom JC, van Ommen GJ. Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet. 2003 Oct; 4 (10): 774–83.
  2. Rodino-Klapac LR, Chicoine LG, Kaspar BK, Mendell JR. Gene therapy for duchenne muscular dystrophy: expectations and challenges. Arch Neurol. 2007 Sep; 64 (9): 1236–41.
  3. Bushby K, Finke R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan; 9 (1): 77–93. DOI: 10.1016/S1474-4422(09)70271-6. Epub 2009 Nov 27.
  4. Boland BJ, Silbert PL, Groover RV, Wollan PC, Silverstein MD. Skeletal, cardiac, and smooth muscle failure in Duchenne muscular dystrophy. Pediatr Neurol. 1996 Jan; 14 (1): 7–12.
  5. Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron. 1989 Jan; 2 (1): 1019–29.
  6. Homo sapiens dystrophin (DMD), RefSeqGene (LRG_199) on chromosome X [Internet]. The National Center for Biotechnology Information. [cited 2015 Jul 8]. Available from: http://www.ncbi.nlm.nih.gov/nuccore/256355061.
  7. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22; 53 (2): 219–28.
  8. Tennyson CN, Klamut HJ, Worton RG. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet. 1995 Feb; 9 (2): 184–90.
  9. Peter AK, Cheng H, Ross RS, Knowlton KU, Chen J. The costamere bridges sarcomeres to the sarcolemma in striated muscle. Prog Pediatr Cardiol. 2011 May; 31 (2): 83–8.
  10. Jaka O, Casas-Fraile L, López de Munain A, Sáenz A. Costamere proteins and their involvement in myopathic processes. Expert Rev Mol Med. 2015 Jun 19; 17: e12.
  11. Iannaccone ST, Castro D. Congenital muscular dystrophies and congenital myopathies. Continuum (Minneap Minn). 2013 Dec; 19 (6 Muscle Disease): 1509–34.
  12. Davies KE, Nowak KJ. Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol. 2006 Oct; 7 (10): 762–73. Epub 2006 Sep 13.
  13. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016 Mar; 53 (3): 145–51. DOI: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11.
  14. Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell. 1995 Mar 10; 80 (5): 675–9.
  15. Blat Y, Blat S.Drug Discovery of Therapies for Duchenne Muscular Dystrophy. J Biomol Screen. 2015 Dec; 20 (10): 1189–203. Epub 2015 May 14.
  16. Kole R, Leppert BJ. Targeting mRNA splicing as a potential treatment for Duchenne muscular dystrophy. Discov Med. 2012 Jul; 14 (74): 59–69.
  17. van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007 Dec 27; 357 (26): 2677–86.
  18. Aartsma-Rus A, van Ommen GJ. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA. 2007 Oct; 13 (10): 1609–24. Epub 2007 Aug 7.
  19. Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, et al. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med. 2014 Sep; 20 (9): 992–1000. Epub 2014 Aug 10.
  20. Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science. 1989 Jun 30; 244 (4912): 1578–80.
  21. White SJ, den Dunnen JT. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res. 2006; 115 (3–4): 240–6.
  22. Leiden Open Variation Database, Leiden Muscular Dystrophy pages [Internet]. Leiden University Medical Center. c2004–2014 [cited 2016 Jun 6–15]. Available from: http://www.dmd.nl/nmdb2/home.php.
  23. Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet. 1992 Nov; 1 (8): 599–603.
  24. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006 Aug; 34 (2): 135–44.
  25. Passos-Bueno MR, Vainzof M, Marie SK, Zatz M. Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy Hum Mol Genet. 1994 Jun; 3 (6): 919–22.
  26. Takeshima Y, Nishio H, Narita N, Wada H, Ishikawa Y, Ishikawa Y, et al. Amino-terminal deletion of 53 % of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. Neurology. 1994 Sep; 44 (9): 1648–51.
  27. Suminaga R, Takeshima Y, Wada H, Yagi M, Matsuo M. C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.Pediatr Res. 2004 Nov; 56 (5): 739–43. Epub 2004 Sep 15.
  28. Prior TW, Bartolo C, Pearl KP, Papp AC, Snyder PJ, Sedra MS, et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet. 1995 Jul; 57: 22–33. 
  29. Nicolas A, Lucchetti-Miganeh C, Yaou RB, Kaplan JC, Chelly J, Leturcq F, et al. Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J Rare Dis. 2012 Jul 9; 7: 45.