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Медицинская генетика

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Терапевтические подходы к использованию системы редактирования генома CRISPR/Cas при наследственных болезнях у человека и модельных животных

https://doi.org/10.25557/2073-7998.2018.05.3-12

Аннотация

С момента открытия системы редактирования генома CRISPR/Cas эта технология благодаря многочисленным модификациям и усовершенствованиям существенно продвинулась, приблизившись вплотную к применению в клинической медицине. В настоящее время на повестке дня стоит вопрос об её использовании для лечения наследственных болезней, где известен ген, вызывающий болезнь.

Об авторе

В. А. Мглинец
ФГБНУ «Медико-генетический научный центр»
Россия


Список литературы

1. Мглинец В.А. Успехи в системе редактирования генома CRISPR/Cas. I. Модификации и улучшение системы// Успехи современной науки. Белгород.

2. Bailus B.J., Pyles B., McAlister M.M., et al. Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain// Molec. Therapy. - 2016. -Vol. 24(3). - P. 548-555.

3. Basu S., Adams L., Guhathakurta S. and KimY.-S. A novel tool for monitoring endogenous alpha-synuclein transcription by NanoLuciferase tag insertion at the 3’end using CRISPR-Cas9 genome editing technique// Scientific Reports. 2017. - Vol. 7, Article number: 45883

4. Batra R., DNelles. A., Krach F. et al. Reversal of molecular pathology by RNA-targeting Cas9 in a myotonic dystrophy mouse model// bioRxiv preprint first posted online Sep. 4, 2017; doi: http://dx.doi.org/10.1101/184408

5. Barzel A., Paulk N.K., Shi Y., et al. Promoterless gene targeting without nucleases ameliorates haemophilia B in mice// Nature. - 2015. - Vol. 517. - P. 360-364.

6. Bell S., Peng H., Crapper L., et al. A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing// STEM CELLS Translational Medicine. - 2017. - Vol. 6 (3). - P. 886-896.

7. Bordignon C. Twenty-five years of gene therapy for genetic diseases and leukemia: The road to marketing authorization of the first ex vivo gene therapies// Journal of Autoimmunity Available online 16 July 2017

8. Brunger J.M., Zutshi A., Willard V.P., et al. Genome Engineering of Stem Cells for Autonomously Regulated, Closed-Loop Delivery of Biologic Drugs// Stem Cell Reports. - 2017- Vol. 8(5). - P. 1202-1213.

9. Calos M.P. Genome Editing Techniques and Their Therapeutic Applications// Clin.Pharmcol. and Ther. - 2016. - Vol. 101. - Therapeutic Innovations. P. 42-51.

10. Cantore A., Ranzani M., Bartholomae C.C., et al. Liver-directed lentiviral gene therapy in a dog model of hemophilia B// Sci. Transl. Med. - 2015. - Vol. 7. - P. 277ra228

11. Cebrian-Serrano A., Davies B. CRISPR-Cas orthologues and variants: optimizing the repertoire, specificity and delivery of genome engineering tools// Mammalian Genome.- 2017 - Vol. 28(7). - P. 247-261.

12. Carroll K. J., Makarewicha C. A., McAnallya J., et al. A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9// PNAS. - 2016.- Vol. 113 (2). - P. 338-343.

13. Chakraborty S., Ji H., Kabadi A.M., et al. A CRISPR/Cas9-based system for reprogramming cell lineage specification// Stem Cell Rep. - 2014. - Vol. 3. - P. 940-947.

14. Cicalese, M.P. & Aiuti, A. Clinical applications of gene therapy for primary immunodeficiencies// Hum. Gene Ther. - 2015. - Vol. 26. - P. 210-219.

15. Cong L., Ran F.A., Cox D., et al. Multiplex genome engineering using CRISPR/Cas systems// Science. - 2013. - Vol. 339. P. 819-823.

16. Cooney A.L., Alaiwa M.H.A., Shah V.S., et al. Lentiviral-mediated phenotypic correction of cystic fibrosis pigs// JCI Insight. - 2016. - Vol. 1(14). - P. e88730.

17. Cornu T.I., Mussolino C., Cathomen T. Refining strategies to translate genome editing to the clinic// Nature Med. - 2017. - Vol. 23. - P. 415-423.

18. Cyranoski D. CRISPR gene-editing tested in a person for the first time// Nature. - 2016. - Vol. 535 (7630). - P. 476-477.

19. De Ravin S.S., Li L., Wu X., et al. CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease// Sci. Translational Med. - 2017. - Vol. 9 (372). - P. pii: eaah3480

20. Dow L.E. Modeling Disease In Vivo With CRISPR/Cas9// Trends in Mol. Med. - 2015. - Vol. 21 (10). - P. 609-621.

21. Duroux-Richard I., Giovannangeli C., Apparailly F. CRISPR-Cas9: A revolution in genome editing in rheumatic diseases // Joint Bone Spine. - 2017. - Vol. 84(1) - P. 1-4

22. Ebina H, Misawa N, Kanemura Y, Koyanagi Y. Harnessing the CRISPR/Cas9 system to disrupt latent HIV-1 provirus// Sci Rep. - 2013. - Vol.3. - P. 2510.

23. Eyquem J., Mansilla-Soto J., Giavridis T., et al. Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection// Nature. - 2017. - Vol. 543. - P. 113-117.

24. Fogarty N.M.E., McCarthy A., Snijders K.E., et al. Genome editing reveals a role for OCT4 in human embryogenesis// Nature. 2017. - DOI: 10.1038/nature24033

25. Gao X., Tsang J.C.H, Gaba F., et al. Comparison of TALE designer transcription factors and the CRISPR/dCas9 in regulation of gene expression by targeting enhancers// Nucleic Acids Res. - 2014. - Vol. 42. - P. e155-e155.

26. Gao Y., Wu H., Wang Y., et al. Single Cas9 nickase induced generation of NRAMP1 knockin cattle with reduced off-target effects// Genome Biol. - 2017.- Vol.18 (1). - P. 13

27. Gaudelli N.M., Komor A.C., Rees H.A., et al. Programmable base editing of A-T to G-C in genomic DNA without DNA cleavage// Nature. - 2017. - DOI:10.1038/nature24644

28. Genovese P, Schiroli G, Escobar G. et al. Targeted genome editing in human repopulating haematopoietic stem cells// Nature. - 2014. - Vol.510(7504). - P.235-240.

29. Gilbert L.A., Larson M.H., Morsut L., et al. CRISPR-mediated modular RNA-guided regulation of transcription in eukaryotes// Cell. - 2013. - Vol. 154.- P. 442-451.

30. Gonzаlez F. CRISPR/Cas9 genome editing in human pluripotent stem cells: Harnessing human genetics in a dish// Dev. Dyn. - 2016. - Vol. 245 (7). - P. 788-806.

31. Guan Y., Ma Y., Li Q., et al. CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse// EMBO Mol. Med. - 2016. - Vol. 8 (5). - P. 477-488.

32. Gyorgy B., Sage C., Indzhykulian A.A., et al. Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV// Mol. Therapy. - 2017. - Vol. 25(2). - P. 379-391.

33. Han X., Liu Z., Ma Y., et al. Cas9 Ribonucleoprotein Delivery via Microfluidic Cell-Deformation Chip for Human T-Cell Genome Editing and Immunotherapy// Adv. Biosys. - 2017. - Vol. 1 (1-2). - P. 1600007.

34. Haussecker D. Stacking up CRISPR against RNAi for therapeutic gene inhibition// FEBS J. - 2016. - Vol. 283 (17). - P. 3249-3260.

35. Hu W, Kaminski R, Yang F, et al. RNA-directed gene editing specifically eradicates latent and prevents new HIV-1 infection. Proc Natl Acad Sci U S A. - 2014. - Vol.111. - P. 11461-6.

36. Hirsch T., Rothoeft T., Teig N., et al. Regeneration of the entire human epidermis using transgenic stem cells. Nature, 2017; DOI: 10.1038/nature24487

37. Huang X., Zhou G., Wu W., et al. Genome editing abrogates angiogenesis in vivo// Nature Communications. - 2017. - Vol. 8 (1) DOI: 10.1038/s41467-017-00140-3

38. Jinek M., East A., Cheng A., et al. RNA-programmed genome editing in human cells// Elife. - 2013. - Vol. 2. - P. e00471.

39. Kalebic N., Taverna E., Tavano S., et al. CRISPR/Cas9-induced disruption of gene expression in mouse embryonic brain and single neural stem cells in vivo// EMBO Rep. - 2016. - V. 17 (3). - P. 338-348.

40. Katayama S., Moriguchi T., Ohtsu N., Kondo T. A Powerful CRISPR/Cas9-Based Method for Targeted Transcriptional Activation// Angew Chem Int Ed Engl. - 2016. - Vol. 55(22). - P. 6452-6456.

41. Kearns NA, Genga RMJ, Enuameh MS, et al. Cas9 effector-mediated regulation of transcription and differentiation in human pluripotent stem cells// Develop. - 2014. - Vol. 141. - P. 219-223.

42. Keeler G.D., Kumar S., Palaschak B. et al. Gene Therapy-Induced Antigen-Specific Tregs Inhibit Neuro-inflammation and Reverse Disease in a Mouse Model of Multiple Sclerosis// Molecular Therapy. - 2017- DOI: 10.1016/j.ymthe.2017.09.001

43. Kiani S, Chavez A, Tuttle M, et al. Cas9 gRNA engineering for genome editing, activation and repression// Nat Methods. - 2015. - Vol. 12. - P. 1051-1054.

44. Kim E., Koo T., Park S.W., et al. In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni// Nature Communic. - 2017. - Vol. 8. - P. 14500

45. Kim K., Park S.W., Kim J.H., et al. Genome surgery using Cas9 ribonucleoproteins for the treatment of age-related macular degeneration// Genome Res. - 2017. DOI: 10.1101/gr.219089.116 **

46. Kim Y.B., Komor A.C., Levy J.M., et al. Increasing the genome-targeting scope and precision of base editing with engineered Cas9-cytidine deaminase fusions// Nat. Biotechnol. - 2017. - Vol. 35(4). - P. 371-376.

47. Konermann S, Brigham MD, Trevino A, et al. Optical control of mammalian endogenous transcription and epigenetic states// Nature. - 2013. - Vol. 500. - P. 472-476.

48. Lee K., Conboy M., Park H.M. , et al. Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA in vivo induces homology-directed DNA repair // Nature Biomedical Engineering (2017) doi:10.1038/s41551-017-0137-2

49. Liang P., Xu Y., Zhang X., et al. CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes// Protein & Cell. - 2015. - Vol. 6 (5). -P. 363-372.

50. Liang W-C., Liang P-P., Wong C-W., et al., CRISPR/Cas9 Technology Targeting Fas Gene Protects Mice From Concanavalin-A Induced Fulminant Hepatic Failure// J. Cell. Biochem. - 2017. - Vol. 118(3). - P. 530-536

51. Limsirichai P., Gaj T., Schaffer D.V. CRISPR-mediated activation of latent HIV-1 expression// Mol Ther. - 2016. - Vol. 24. - P. 499-507.

52. Liu, G., Suzuki, K., Qu, J., et al. Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSC// Cell Stem Cell.- 2011. -Vol. 8 (6).- P. 688-694.

53. Long C., Amoasii L, et al. Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy// Science. - 2016. - Vol. 351. - P. 400-403.

54. Loperfido, M., Jarmin S., Dastidar S. et al. piggyBac transposons expressing full-length human dystrophin enable genetic correction of dystrophic mesoangioblasts// Nucl. Acids Res. - 2016.- Vol.44. - P. 744-760.

55. Ma H., Marti-Gutierrez N., Park S.-W., et al. Correction of a pathogenic gene mutation in human embryos. Nature. - 2017. - Vol. 548(7668). - P. 413-419.

56. Mali P., Yang L., Esvelt K.M., et al. RNA-Guided Human Genome Engineering via Cas// Science.- 2013. - Vol. 339. - P. 823-826.

57. Mansilla-Soto, J., Riviere, I., Boulad, F. & Sadelain, M. Cell and gene therapy for the Beta-thalassemias: advances and prospects// Hum. Gene Ther. - 2016. - Vol. 27. - P. 295-304.

58. Matkar P.N., Leong-Poi H. and Singh K.K. Cardiac gene therapy: are we there yet?// Gene Therapy. - 2016. - Vol. 23. - P. 635-648.

59. Molinski S.V., Ahmadi S., Ip W., et al. Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue// EMBO Molecular Med. - 2017. - Vol. 9. - P. 1224-1243.

60. Moreno A.M., Mali P. Therapeutic genome engineering via CRISPR-Cas system// Wiley Interdisciplinary Reviews. Systems Biology and Medicine (WIREs) - 2017. - Vol. 9(4). - P. e1380.

61. Nelson C.E. Hakim C.H., Ousterout D.G., et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy// Science. - 2016. - Vol. 351 (6271). - P. 403-407.

62. Okada M., Kanamori M., Someya K. et al. Stabilization of Foxp3 expression by CRISPR-dCas9-based epigenome editing in mouse primary T cells// Epigenetics & Chromatin. - 2017. - Vol.10. - P. 24

63. Pan B., Askew C., Galvin A., et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c// Nat. Biotechnol. - 2017. - Vol. 35(3). - P. 264-272.

64. Qi LS, Larson MH, Gilbert LA, et al. Repurposing CRISPR as an RNA-guided platform for sequence-specific control of gene expression. Cell. - 2013. - Vol. 152. - P. 1173-1183.

65. Ran F.A. Cong L., Yan W.X., et al. In vivo genome editing using Staphylococcus aureus Cas9// Nature. - 2015. - Vol. 520. - P. 186-191.

66. Sakuma T., Masaki K., Abe-Chayama H., et al. Highly multiplexed CRISPR-Cas9-nuclease and Cas9-nickase vectors for inactivation of hepatitis B virus// Genes to Cells. - 2016. - Vol. 21 (11). - P. 1253-1262.

67. Schiroli G., Ferrari S., Conway A., et al. Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1// Science Translational Medicine. 2017. - Vol. 9(411), eaan0820.

68. Schwank G., Koo B-K., Sasselli V., et al. Functional Repair of CFTR by CRISPR/Cas9 in Intestinal Stem Cell Organoids of Cystic Fibrosis Patients// Cell Stem Cell. - 2013. - Vol. 13(6). - P. 653-658.

69. Shi Y., Inoue H., Wu J.C., Yamanaka S. Induced pluripotent stem cell technology: a decade of progress// Nat. Rev. Drug Discovery. - 2017. - Vol. 16. - P.115-130.

70. Simeonov D.R., Gowen B.G., Boontanrart M. et al. Discovery of stimulation-responsive immune enhancers with CRISPR activation. Nature. - 2017 - Vol. 549. - P. 111-1115.

71. Spragg, C., Feelixge, H.D.S., Jerome, K.R. Cell and gene therapy strategies to eradicate HIV reservoirs.// Current Opinion in HIV and AIDS. - 2016.- Vol. 11 (4). - P. 442-449.

72. Staahl B.T., Benekareddy M., Coulon-Bainier C., et al. Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes// Nat. Biotechnol. - 2017. - Vol. 35(5). - P. 431-434.

73. Su S., Hu B., Shao J., et al. CRISPR-Cas9 mediated efficient PD-1 disruption on human primary T cells from cancer patients// Sci Rep. - 2016. - Vol. 6. - Article number: 20070.

74. Suzuki K., Tsunekawa Y., Hernandez-Benitez R., et al. In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration// Nature. - 2016. - Vol. 540. - P. 144-149.

75. Tabebordbar M. Zhu K., Cheng J.K., et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells//Science. - 2016. - Vol. 351.- P. 407-411.

76. Tang H., Shrager J.B. CRISPR/Cas-mediated genome editing to treat EGFR-mutant lung cancer: a personalized molecular surgical therapy// EMBO Mol. Med. - 2016. - Vol.8 (2). - P.83-85.

77. Tschaharganeh D.F., Lowe S.W., Garippa R.J., Livshits G. Using CRISPR/Cas to study gene function and model disease in vivo// FEBS J. - 2016. - Vol. 283(17). - P.3194-3203.

78. Vojta A., Dobriniс P., Tadiс V., et al. Repurposing the CRISPR-Cas9 system for targeted DNA methylation// Nucl. Acids Residues. - 2016.- Vol. 44.- P. 5615-5628.

79. Vora S., Tuttle M., Cheng J., Church G. Next stop for the CRISPR revolution: RNA-guided epigenetic regulators// FEBS J. - 2016. - Vol. 283 (17). - P. 3181-3193.

80. Wu Y, Liang D, Wang Y, Bai M, Tang W, Bao S, et al. Correction of a genetic disease in mouse via use of CRISPR-Cas9// Cell Stem Cell. - 2013. - Vol.13. - P. 659-62.

81. Wu Y, Zhou H, Fan X, et al. Correction of a genetic disease by CRISPR-Cas9-mediated gene editing in mouse spermatogonial stem cells// Cell Res. - 2015. - Vol.25. - P. 67-79.

82. Wykes R.C, Lignani G. Gene therapy and editing: Novel potential treatments for neuronal channelopathies// j. Neuropharm. -2017. - pii: S0028-3908(17)30254-X.

83. Xu L., Park K.H., Zhao L., et al. CRISPR-mediated Genome Editing Restores Dystrophin Expression and Function in mdx Mice// Mol. Therapy. - 2016. - Vol.4(3). - P. 564-569.

84. Yin H, Xue W, Chen S, et al., Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype// Nat Biotechnol. - 2014. - Vol. 32. - P. 551-553.

85. Zarbin M. Cell-Based Therapy for Degenerative Retinal // Trends in Mol.Med. - 2016. - Vol. 22 (2). - P. 115-134.

86. Zhang Y., Long C., Li H., et. al. CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice// Sci. Adv. - 2017.- Vol. 3(4). - P. e1602814

87. Zhang Y., Yin C., Zhang T., et al. CRISPR/gRNA-directed synergistic activation mediator (SAM) induces specific, persistent and robust reactivation of the HIV-1 latent reservoirs// Sci Rep. - 2015. - Vol. 5. - P. 16277.

88. Zhao, C. Farruggio A.P., Bjornson C.R.R. et al. Recombinase-mediated reprogramming and dystrophin gene addition in mdx mouse induced pluripotent stem cells// PLoS One. - 2014. -Vol. 9. - P. e96279.

89. Zhou W., Deiters A. Conditional Control of CRISPR/Cas9 Function// Angew Chem. Int. Ed. Engl. - 2016. - Vol. 55(18). - P. 5394-5399.

90. Zhu J., Ming C., Fu X., et al. Gene and mutation independent therapy via CRISPR-Cas9 mediated cellular reprogramming in rod photoreceptors// Cell Research. - 2017. - Vol. 27. - P.830-833.


Рецензия

Для цитирования:


Мглинец В.А. Терапевтические подходы к использованию системы редактирования генома CRISPR/Cas при наследственных болезнях у человека и модельных животных. Медицинская генетика. 2018;17(5):3-12. https://doi.org/10.25557/2073-7998.2018.05.3-12

For citation:


Mglinets V.A. Therapeutic approaches of the CRISPR/Cas genome editing system for genetic diseases in humans and model animals. Medical Genetics. 2018;17(5):3-12. (In Russ.) https://doi.org/10.25557/2073-7998.2018.05.3-12

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