Mutation rate in stem cells: An underestimated barrier on the way to therapy

Trends in Molecular Medicine

Volumn 19, Issue 5, 2013, Pages 273-280

  Sverdlov, Eugene D ^a,b   Mineev, Konstantin ^b  

^a INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^b SHEMYAKIN OVCHINNIKOV INSTITUTE OF BIOORGANIC CHEMISTRY   (Russian Federation)

Author keywords

Biosafety; Clinical application; Mutation rate; Stem cells; Stem cells variability

Indexed keywords

DNA; MICRORNA;

APOPTOSIS; CELL CULTURE; CELL DIFFERENTIATION; CELL DIVISION; CELL EXPANSION; CELL POPULATION; CELL PROLIFERATION; CELL RENEWAL; CELL SELECTION; CELL TYPE; CYTOLOGY; DNA DAMAGE; DNA REPAIR; EMBRYONIC STEM CELL; EX VIVO STUDY; GENE MUTATION; HUMAN; IN VITRO STUDY; NONHUMAN; PLURIPOTENT STEM CELL; PROGENY; REVIEW; RISK REDUCTION; STEM CELL; STEM CELL TRANSPLANTATION; TABOO;

ANIMALS; CELLS, CULTURED; HUMANS; MUTATION; MUTATION RATE; STEM CELLS; TISSUE THERAPY;

EID: 84877106756     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2013.01.004     Document Type: Review

References (71)

1. Shklovskii I. Echelon 1991, Novosti, (in Russian).
2. Sverdlov E.D. Fundamental taboos of biology. Biochemistry (Mosc.) 2009, 74:939-944.
3. Frank S.A. Evolution in health and medicine Sackler colloquium: somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc. Natl. Acad. Sci. U.S.A. 2010, 107(Suppl. 1):1725-1730.
4. De S. Somatic mosaicism in healthy human tissues. Trends Genet. 2011, 27:217-223.
5. Luo L.Z., et al. DNA repair in human pluripotent stem cells is distinct from that in non-pluripotent human cells. PLoS ONE 2012, 7:e30541.
6. Banerjee C. Stem cells therapies in basic science and translational medicine: current status and treatment monitoring strategies. Curr. Pharm. Biotechnol. 2011, 12:469-487.
7. Mimeault M., Batra S.K. Great promise of tissue-resident adult stem/progenitor cells in transplantation and cancer therapies. Adv. Exp. Med. Biol. 2012, 741:171-186.
8. Carpenter M.K., et al. Developing safe therapies from human pluripotent stem cells. Nat. Biotechnol. 2009, 27:606-613.
9. Ben-David U., et al. Expanding the boundaries of embryonic stem cells. Cell Stem Cell 2012, 10:666-677.
10. Schwartz S.D., et al. Embryonic stem cell trials for macular degeneration: a preliminary report. Lancet 2012, 379:713-720.
11. Hernandez D., et al. Feeder-free culture of human embryonic stem cells for scalable expansion in a reproducible manner. Stem Cells Dev. 2011, 20:1089-1098.
12. Kehoe D.E., et al. Scalable stirred-suspension bioreactor culture of human pluripotent stem cells. Tissue Eng. Part A 2010, 16:405-421.
13. Rao M., Vemuri M.C. Large scale culture of pluripotent stem cells for therapy. Stem Cells from Bench to Bedside 2011, 127-155. World Scientific Publishing. 2nd edn. A. Bongso, E.H. Lee (Eds.).
14. Bock C., et al. Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell 2011, 144:439-452.
15. Stephenson E., et al. Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cells. J. R. Soc. Interface 2010, 7(Suppl. 6):S677-S688.
16. Bajpai R., et al. Efficient propagation of single cells Accutase-dissociated human embryonic stem cells. Mol. Reprod. Dev. 2008, 75:818-827.
17. Santarius T., et al. A census of amplified and overexpressed human cancer genes. Nat. Rev. Cancer 2010, 10:59-64.
18. Prindle M.J., et al. The mutator phenotype in cancer: molecular mechanisms and targeting strategies. Curr. Drug Targets 2010, 11:1296-1303.
19. Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:961-968.
20. Salk J.J., et al. Mutational heterogeneity in human cancers: origin and consequences. Annu. Rev. Pathol. 2010, 5:51-75.
21. Saretzki G., et al. Stress defense in murine embryonic stem cells is superior to that of various differentiated murine cells. Stem Cells 2004, 22:962-971.
22. Rebuzzini P., et al. Mouse embryonic stem cells that survive gamma-rays exposure maintain pluripotent differentiation potential and genome stability. J. Cell. Physiol. 2012, 227:1242-1249.
23. Hong Y., et al. Protecting genomic integrity in somatic cells and embryonic stem cells. Mutat. Res. 2007, 614:48-55.
24. Li L., Neaves W.B. Normal stem cells and cancer stem cells: the niche matters. Cancer Res. 2006, 66:4553-4557.
25. Gasperowicz M., Natale D.R. Establishing three blastocyst lineages - then what?. Biol. Reprod. 2011, 84:621-630.
26. Baker D.E., et al. Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nat. Biotechnol. 2007, 25:207-215.
27. Ben-David U., Benvenisty N. The tumorigenicity of human embryonic and induced pluripotent stem cells. Nat. Rev. Cancer 2011, 11:268-277.
28. Tichy E.D., Stambrook P.J. DNA repair in murine embryonic stem cells and differentiated cells. Exp. Cell Res. 2008, 314:1929-1936.
29. Tichy E.D. Mechanisms maintaining genomic integrity in embryonic stem cells and induced pluripotent stem cells. Exp. Biol. Med. (Maywood) 2011, 236:987-996.
30. Stambrook P.J. An ageing question: do embryonic stem cells protect their genomes?. Mech. Ageing Dev. 2007, 128:31-35.
31. Saretzki G., et al. Downregulation of multiple stress defense mechanisms during differentiation of human embryonic stem cells. Stem Cells 2008, 26:455-464.
32. Maynard S., et al. Human embryonic stem cells have enhanced repair of multiple forms of DNA damage. Stem Cells 2008, 26:2266-2274.
33. Serrano L., et al. Homologous recombination conserves DNA sequence integrity throughout the cell cycle in embryonic stem cells. Stem Cells Dev. 2011, 20:363-374.
34. Tichy E.D., et al. Mouse embryonic stem cells, but not somatic cells, predominantly use homologous recombination to repair double-strand DNA breaks. Stem Cells Dev. 2010, 19:1699-1711.
35. Denissova N.G., et al. Ionizing radiation is a potent inducer of mitotic recombination in mouse embryonic stem cells. Mutat. Res. 2011, 715:1-6.
36. Cervantes R.B., et al. Embryonic stem cells and somatic cells differ in mutation frequency and type. Proc. Natl. Acad. Sci. U.S.A. 2002, 99:3586-3590.
37. Munroe R.J., et al. Mouse mutants from chemically mutagenized embryonic stem cells. Nat. Genet. 2000, 24:318-321.
38. Thomas J.W., et al. X-Ray-induced mutations in mouse embryonic stem cells. Proc. Natl. Acad. Sci. U.S.A. 1998, 95:1114-1119.
39. Arndt P.F., et al. Substantial regional variation in substitution rates in the human genome: importance of GC content, gene density, and telomere-specific effects. J. Mol. Evol. 2005, 60:748-763.
40. Cui P., et al. Distinct contributions of replication and transcription to mutation rate variation of human genomes. Genomics Proteomics Bioinformatics 2012, 10:4-10.
41. Ross A.L., et al. Genomic instability in cultured stem cells: associated risks and underlying mechanisms. Regen. Med. 2011, 6:653-662.
42. Lefort N., et al. Human embryonic stem cells and genomic instability. Regen. Med. 2009, 4:899-909.
43. Diaferia G.R., et al. Systematic chromosomal analysis of cultured mouse neural stem cell lines. Stem Cells Dev. 2011, 20:1411-1423.
44. Diaferia G.R., et al. The science of stem cell biobanking: investing in the future. J. Cell. Physiol. 2012, 227:14-19.
45. Catalina P., et al. Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?. Mol. Cancer 2008, 7:76.
46. Hussein S.M., et al. Copy number variation and selection during reprogramming to pluripotency. Nature 2011, 471:58-62.
47. Martins-Taylor K., Xu R.H. Concise review: Genomic stability of human induced pluripotent stem cells. Stem Cells 2012, 30:22-27.
48. Robinton D.A., Daley G.Q. The promise of induced pluripotent stem cells in research and therapy. Nature 2012, 481:295-305.
49. Puri M.C., Nagy A. Concise review: Embryonic stem cells versus induced pluripotent stem cells: the game is on. Stem Cells 2012, 30:10-14.
50. Bilic J., Izpisua Belmonte J.C. Concise review: Induced pluripotent stem cells versus embryonic stem cells: close enough or yet too far apart?. Stem Cells 2012, 30:33-41.
51. Grabel L. Prospects for pluripotent stem cell therapies: into the clinic and back to the bench. J. Cell. Biochem. 2011, 113:381-387.
52. Ji J., et al. Elevated coding mutation rate during the reprogramming of human somatic cells into induced pluripotent stem cells. Stem Cells 2012, 30:435-440.
53. Gore A., et al. Somatic coding mutations in human induced pluripotent stem cells. Nature 2011, 471:63-67.
54. Tapia N., Scholer H.R. p53 connects tumorigenesis and reprogramming to pluripotency. J. Exp. Med. 2010, 207:2045-2048.
55. Lin C.P., et al. The emerging functions of the p53-miRNA network in stem cell biology. Cell Cycle 2012, 11:2063-2072.
56. Baum C., et al. Concise review: Managing genotoxicity in the therapeutic modification of stem cells. Stem Cells 2011, 29:1479-1484.
57. Liang Y., et al. The propensity for tumorigenesis in human induced pluripotent stem cells is correlated with genomic instability. Chin. J. Cancer 2013, 32:205-212.
58. Tang C., Drukker M. Potential barriers to therapeutics utilizing pluripotent cell derivatives: intrinsic immunogenicity of in vitro maintained and matured populations. Semin. Immunopathol. 2011, 33:563-572.
59. Navin N., et al. Tumour evolution inferred by single-cell sequencing. Nature 2011, 472:90-94.
60. Zong C., et al. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science 2012, 338:1622-1626.
61. Drews K., et al. Human induced pluripotent stem cells - from mechanisms to clinical applications. J. Mol. Med. (Berl.) 2012, 90:735-745.
62. Shevde N. Stem cells: flexible friends. Nature 2012, 483:S22-S26.
63. Tajbakhsh S. Stem cell: what's in a name. Nat. Rep. Stem Cells 2009, 10.1038/stemcells.2009.90.
64. Slack J.M. Origin of stem cells in organogenesis. Science 2008, 322:1498-1501.
65. Kuijk E.W., et al. The different shades of mammalian pluripotent stem cells. Hum. Reprod. Update 2011, 17:254-271.
66. Somorjai I.M., et al. Stem cells: a view from the roots. Biotechnol. J. 2012, 7:704-722.
67. Nardi N.B. All the adult stem cells, where do they all come from? An external source for organ-specific stem cell pools. Med. Hypotheses 2005, 64:811-817.
68. Cowan C.A., et al. Derivation of embryonic stem-cell lines from human blastocysts. N. Engl. J. Med. 2004, 350:1353-1356.
69. Kim K.S., et al. Self-renewal induced efficiently, safely, and effective therapeutically with one regulatable gene in a human somatic progenitor cell. Proc. Natl. Acad. Sci. U.S.A. 2011, 108:4876-4881.
70. Okita K., et al. Generation of germline-competent induced pluripotent stem cells. Nature 2007, 448:313-317.
71. Kruse C., et al. Current stem cell technology: limitations and realistic expectations. Eng. Life Sci. 2008, 8:13-18.