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).

OPINION

The prospects of gene therapy for mitochondrial diseases: can’t we do without CRISPR/Cas9?

Chicherin IV, Levitskii SA1, Krasheninnikov IA, Tarassov I2, Kamenski P3
About authors

1 Faculty of Biology, Lomonosov Moscow State University, Moscow

2 Laboratory of Molecular Genetics, Genomics and Microbiology,
University of Strasbourg, Strasbourg, France

3 Institute of Living Systems,
Immanuel Kant Baltic Federal University, Kaliningrad, Russia

Correspondence should be addressed: Peter Kamenski
Leninskie Gory, d. 1, str. 12, Moscow, Russia, 119991 (Faculty of Biology); ur.usm.oib.nietorp@retep

About paper

Funding: Russian Science Foundation, grant No. 14-50-00029 (Lomonosov Moscow State University); Project 5–100 of the Ministry of Education and Science of the Russian Federation (Immanuel Kant Baltic Federal University); the International Associated Laboratory RNA-mitocure (Lomonosov Moscow State University and the University of Strasbourg).

Contribution of the authors to this work: Chicherin IV, Levitsky SA —analysis of literature; Krasheninnikov IA, Tarassov I — analysis of mechanism of a hypothetical mitoCRISPR/Cas9 platform; Kamenski P — data generalization, drafting of a manuscript. All authors participated in editing of the manuscript.

Received: 2017-06-20 Accepted: 2017-06-23 Published online: 2017-07-19
|
  1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J et al. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9; 290 (5806): 457–65.
  2. Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders — past, present and future. Biochim Biophys Acta. 2004 Dec 6; 1659 (2–3): 115–20.
  3. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005 May; 6 (5): 389–402.
  4. Patrushev MV, Kamenski PA, Mazunin IO. Mutations in mitochondrial DNA and approaches for their correction. Biochemistry (Mosc). 2014 Nov; 79 (11): 1151–60. DOI: 10.1134/S0006297914110029.
  5. Wolf DP, Mitalipov N, Mitalipov S. Mitochondrial replacement therapy in reproductive medicine. Trends Mol Med. 2015 Feb; 21 (2): 68–76. DOI: 10.1016/j.molmed.2014.12.001.
  6. Rulli T. The Mitochondrial Replacement 'Therapy' Myth. Bioethics. 2017 Jun; 31 (5): 368–74. DOI: 10.1111/bioe.12332.
  7. Burrell C. Mitochondrial replacement therapy and 'three-parent children' — who should be registered as the legal parents? BJOG. 2017 Jun; 124 (7): 1056. DOI: 10.1111/14710528.14638.
  8. Adashi EY, Cohen IG. Mitochondrial Replacement Therapy: Unmade in the USA. JAMA. 2017 Feb 14; 317 (6): 574–5. DOI: 10.1001/jama.2016.20935.
  9. Tanaka M, Borgeld HJ, Zhang J, Muramatsu S, Gong JS, Yoneda M et al. Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria. J Biomed Sci. 2002; 9 (6 Pt 1): 534–41.
  10. Gammage PA, Gaude E, Van Haute L, Rebelo-Guiomar P, Jackson CB, Rorbach J et al. Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. Nucleic Acids Res. 2016 Sep 19; 44 (16): 7804–16. DOI: 10.1093/nar/gkw676.
  11. Bacman SR, Williams SL, Pinto M, Peralta S, Moraes CT. Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs. Nat Med. 2013 Sep; 19 (9): 1111–3. DOI: 10.1038/nm.3261.
  12. Doudna JA, Charpentier E. Genome editing. The new frontier of genome engineering with CRISPR-Cas9. Science. 2014 Nov 28; 346 (6213): 1258096. DOI: 10.1126/science.1258096.
  13. Liang P, Xu Y, Zhang X, Ding C, Huang R, Zhang Z et al. CRISPR/ Cas9-mediated gene editing in human tripronuclear zygotes. Protein Cell. 2015 May; 6 (5): 363–72. DOI: 10.1007/s13238-015-0153-5.
  14. Belhaj K, Chaparro-Garcia A, Kamoun S, Patron NJ, Nekrasov V. Editing plant genomes with CRISPR/Cas9. Curr Opin Biotechnol. 2015 Apr; 32: 76–84. DOI: 10.1016/j.copbio.2014.11.007.
  15. GaoY,WuH,WangY,LiuX,ChenL,LiQetal.SingleCas9 nickase induced generation of NRAMP1 knockin cattle with reduced off-target effects. Genome Biol. 2017 Feb 1;18 (1): 13. DOI: 10.1186/s13059-016-1144-4.
  16. Straub SP, Stiller SB, Wiedemann N, Pfanner N. Dynamic organization of the mitochondrial protein import machinery. Biol Chem. 2016 Nov 1; 397 (11): 1097–114. DOI: 10.1515/hsz- 2016-0145.
  17. Orishchenko KE, Sofronova JK, Chupakhin EG, Lunev EA, Mazunin IO. Delivery Cas9 into mitochondria. Genes and Cells. 2016; 11: 100–5.
  18. Sieber F, Duchene AM, Marechal-Drouard L. Mitochondrial RNA import: from diversity of natural mechanisms to potential applications. Int Rev Cell Mol Biol. 2011; 287: 145–90. DOI: 10.1016/B978-0-12-386043-9.00004-9.
  19. Wang G, Shimada E, Zhang J, Hong JS, Smith GM, Teitell MA et al. Correcting human mitochondrial mutations with targeted RNA import. Proc Natl Acad Sci U S A. 2012 Mar 27; 109 (13): 4840–5. DOI: 10.1073/pnas.1116792109.
  20. Kolesnikova O, Kazakova H, Comte C, Steinberg S, Kamenski P, Martin RP et al. Selection of RNA aptamers imported into yeast and human mitochondria. RNA. 2010 May; 16 (5): 926–41. DOI: 10.1261/rna.1914110.
  21. Comte C, Tonin Y, Heckel-Mager AM, Boucheham A, Smirnov A, Aure K et al. Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. Nucleic Acids Res. 2013 Jan 7; 41 (1): 418–33. DOI: 10.1093/nar/gks965.
  22. Tonin Y, Heckel AM, Vysokikh M, Dovydenko I, Meschaninova M, Rotig A et al. Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA. J Biol Chem. 2014 May 9; 289 (19): 13323–34. DOI: 10.1074/jbc.M113.528968.
  23. Kolesnikov AA. The Mitochondrial Genome. The Nucleoid, Biochemistry (Mosc). 2016; 81 (2): 1057–65.
  24. Moretton A, Morel F, Macao B, Lachaume P, Ishak L, Lefebvre M et al. Selective mitochondrial DNA degradation following double-strand breaks. PLoS One. 2017 Apr 28; 12 (4): e0176795. DOI: 10.1371/journal.pone.0176795.