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Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Rissone, Alberto, Weinacht, Katja Gabriele, la Marca, Giancarlo, Bishop, Kevin, Giocaliere, Elisa, Jagadeesh, Jayashree, Felgentreff, Kerstin, Dobbs, Kerry, Al-Herz, Waleed, Jones, Marypat, Chandrasekharappa, Settara, Kirby, Martha, Wincovitch, Stephen, Simon, Karen Lyn, Itan, Yuval, DeVine, Alex, Schlaeger, Thorsten, Schambach, Axel, Sood, Raman, Notarangelo, Luigi D., Candotti, Fabio·2015·Journal of Experimental Medicine
DOI 10.1084/jem.20141286PMC PMC4516804
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Abstract

Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of all tissues. The AK2 isoenzyme is expressed in the mitochondrial intermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunodeficiency (SCID) in humans. RD is characterized by a maturation arrest in the myeloid and lymphoid lineages, leading to early onset, recurrent, and overwhelming infections. To gain insight into the pathophysiology of RD, we studied the effects of AK2 deficiency using the zebrafish model and induced pluripotent stem cells (iPSCs) derived from fibroblasts of an RD patient. In zebrafish, Ak2 deficiency affected hematopoietic stem and progenitor cell (HSPC) development with increased oxidative stress and apoptosis. AK2-deficient iPSCs recapitulated the characteristic myeloid maturation arrest at the promyelocyte stage and demonstrated an increased AMP/ADP ratio, indicative of an energy-depleted adenine nucleotide profile. Antioxidant treatment rescued the hematopoietic phenotypes in vivo in ak2 mutant zebrafish and restored differentiation of AK2-deficient iPSCs into mature granulocytes. Our results link hematopoietic cell fate in AK2 deficiency to cellular energy depletion and increased oxidative stress. This points to the potential use of antioxidants as a supportive therapeutic modality for patients with RD.

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Research works printed but not linked: 56

  1. Al-Zahrani, 2013, Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis, J. Allergy Clin. Immunol., 132, 993, 10.1016/j.jaci.2013.04.055 · DOI
  2. Aloj, 2012, Severe combined immunodeficiences: new and old scenarios, Int. Rev. Immunol., 31, 43, 10.3109/08830185.2011.644607 · DOI
  3. Antoine, 2003, Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99, Lancet., 361, 553, 10.1016/S0140-6736(03)12513-5 · DOI
  4. Argenton, 2004, Ectopic expression and knockdown of a zebrafish sox21 reveal its role as a transcriptional repressor in early development, Mech. Dev., 121, 131, 10.1016/j.mod.2004.01.001 · DOI · Paper page
  5. Bandlow, 1988, Yeast adenylate kinase is active simultaneously in mitochondria and cytoplasm and is required for non-fermentative growth, Eur. J. Biochem., 178, 451, 10.1111/j.1432-1033.1988.tb14469.x · DOI
  6. Bertrand, 2008, CD41+ cmyb+ precursors colonize the zebrafish pronephros by a novel migration route to initiate adult hematopoiesis, Development., 135, 1853, 10.1242/dev.015297 · DOI
  7. Bertrand, 2002, Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients, Bone Marrow Transplant., 29, 759, 10.1038/sj.bmt.1703531 · DOI
  8. Bujan, 1993, Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis, Blood., 82, 1684, 10.1182/blood.V82.5.1684.bloodjournal8251684a · DOI
  9. Burkart, 2011, Adenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response, J. Biol. Chem., 286, 4081, 10.1074/jbc.M110.134106 · DOI
  10. Castaigne, 1990, All-trans retinoic acid as a differentiation therapy for acute promyelocytic leukemia. I. Clinical results, Blood., 76, 1704, 10.1182/blood.V76.9.1704.1704 · DOI
  11. Chen, 2012, Adenylate kinase 2 (AK2) promotes cell proliferation in insect development, BMC Mol. Biol., 13, 31, 10.1186/1471-2199-13-31 · DOI
  12. Choi, 2012, Predicting the functional effect of amino acid substitutions and indels, PLoS ONE., 7, e46688, 10.1371/journal.pone.0046688 · DOI · Paper page
  13. Craven, 2005, Loss of Hspa9b in zebrafish recapitulates the ineffective hematopoiesis of the myelodysplastic syndrome, Blood., 105, 3528, 10.1182/blood-2004-03-1089 · DOI
  14. Daily, 2010, Many local motions cooperate to produce the adenylate kinase conformational transition, J. Mol. Biol., 400, 618, 10.1016/j.jmb.2010.05.015 · DOI
  15. De Vaal, 1959, Reticular dysgenesia, Lancet., 274, 1123, 10.1016/S0140-6736(59)90105-9 · DOI
  16. Dzeja, 2003, Phosphotransfer networks and cellular energetics, J. Exp. Biol., 206, 2039, 10.1242/jeb.00426 · DOI
  17. Dzeja, 2009, Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing, Int. J. Mol. Sci., 10, 1729, 10.3390/ijms10041729 · DOI
  18. Finckbeiner, 2011, Transient knockdown and overexpression reveal a developmental role for the zebrafish enosf1b gene, Cell Biosci., 1, 32, 10.1186/2045-3701-1-32 · DOI
  19. Fischer, 2005, Severe combined immunodeficiency. A model disease for molecular immunology and therapy, Immunol. Rev., 203, 98, 10.1111/j.0105-2896.2005.00223.x · DOI
  20. Flicek, 2013, Ensembl 2013, Nucleic Acids Res., 41, D48, 10.1093/nar/gks1236 · DOI
  21. Fujisawa, 2009, Adenylate kinase isozyme 2 is essential for growth and development of Drosophila melanogaster, Comp. Biochem. Physiol. B Biochem. Mol. Biol., 153, 29, 10.1016/j.cbpb.2009.01.006 · DOI
  22. Goujon, 2010, A new bioinformatics analysis tools framework at EMBL-EBI, Nucleic Acids Res., 38, W695, 10.1093/nar/gkq313 · DOI · Paper page
  23. Hatefi, 1985, The mitochondrial electron transport and oxidative phosphorylation system, Annu. Rev. Biochem., 54, 1015, 10.1146/annurev.bi.54.070185.005055 · DOI
  24. Henderson, 2013, First reported case of Omenn syndrome in a patient with reticular dysgenesis, J. Allergy Clin. Immunol., 131, 1227, 10.1016/j.jaci.2012.07.045 · DOI
  25. Jang, 2007, A low level of reactive oxygen species selects for primitive hematopoietic stem cells that may reside in the low-oxygenic niche, Blood., 110, 3056, 10.1182/blood-2007-05-087759 · DOI · Paper page
  26. Janssen, 2000, Adenylate kinase 1 gene deletion disrupts muscle energetic economy despite metabolic rearrangement, EMBO J., 19, 6371, 10.1093/emboj/19.23.6371 · DOI
  27. Kimmel, 1995, Stages of embryonic development of the zebrafish, Dev. Dyn., 203, 253, 10.1002/aja.1002030302 · DOI · Paper page
  28. Kissa, 2008, Live imaging of emerging hematopoietic stem cells and early thymus colonization, Blood., 111, 1147, 10.1182/blood-2007-07-099499 · DOI
  29. Köhler, 1999, Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis, FEBS Lett., 447, 10, 10.1016/S0014-5793(99)00251-3 · DOI
  30. Lagresle-Peyrou, 2009, Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness, Nat. Genet., 41, 106, 10.1038/ng.278 · DOI
  31. Lagresle-Peyrou, 2011, Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis, J. Allergy Clin. Immunol., 128, 230, 10.1016/j.jaci.2011.02.008 · DOI
  32. Lawson, 2002, In vivo imaging of embryonic vascular development using transgenic zebrafish, Dev. Biol., 248, 307, 10.1006/dbio.2002.0711 · DOI
  33. Le Guyader, 2008, Origins and unconventional behavior of neutrophils in developing zebrafish, Blood., 111, 132, 10.1182/blood-2007-06-095398 · DOI
  34. Lee, 2007, AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10, Nat. Cell Biol., 9, 1303, 10.1038/ncb1650 · DOI
  35. Lee, 1998, Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues, J. Biochem., 123, 47, 10.1093/oxfordjournals.jbchem.a021915 · DOI
  36. Liesa, 2013, Mitochondrial dynamics in the regulation of nutrient utilization and energy expenditure, Cell Metab., 17, 491, 10.1016/j.cmet.2013.03.002 · DOI · Paper page
  37. Lin, 2005, Analysis of thrombocyte development in CD41-GFP transgenic zebrafish, Blood., 106, 3803, 10.1182/blood-2005-01-0179 · DOI
  38. Liu, 2009, Enzymatically inactive adenylate kinase 4 interacts with mitochondrial ADP/ATP translocase, Int. J. Biochem. Cell Biol., 41, 1371, 10.1016/j.biocel.2008.12.002 · DOI
  39. Mugoni, 2014, Analysis of oxidative stress in zebrafish embryos, J. Vis. Exp., e51328, 10.3791/51328 · DOI
  40. Park, 2008, Reprogramming of human somatic cells to pluripotency with defined factors, Nature., 451, 141, 10.1038/nature06534 · DOI · Paper page
  41. Poliani, 2009, Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome, Blood., 114, 105, 10.1182/blood-2009-03-211029 · DOI
  42. Pucar, 2000, Compromised energetics in the adenylate kinase AK1 gene knockout heart under metabolic stress, J. Biol. Chem., 275, 41424, 10.1074/jbc.M007903200 · DOI
  43. Pucar, 2002, Adenylate kinase AK1 knockout heart: energetics and functional performance under ischemia-reperfusion, Am. J. Physiol. Heart Circ. Physiol., 283, H776, 10.1152/ajpheart.00116.2002 · DOI
  44. Renaud, 2011, Studying cell behavior in whole zebrafish embryos by confocal live imaging: application to hematopoietic stem cells, Nat. Protoc., 6, 1897, 10.1038/nprot.2011.408 · DOI
  45. Rissone, 2012, The synaptic proteins β-neurexin and neuroligin synergize with extracellular matrix-binding vascular endothelial growth factor a during zebrafish vascular development, Arterioscler. Thromb. Vasc. Biol., 32, 1563, 10.1161/ATVBAHA.111.243006 · DOI
  46. Ryter, 2002, Heme oxygenase-1: molecular mechanisms of gene expression in oxygen-related stress, Antioxid. Redox Signal., 4, 625, 10.1089/15230860260220120 · DOI
  47. Sauer, 2001, Reactive oxygen species as intracellular messengers during cell growth and differentiation, Cell. Physiol. Biochem., 11, 173, 10.1159/000047804 · DOI
  48. Shapiro, 2000, Backbone dynamics of Escherichia coli adenylate kinase at the extreme stages of the catalytic cycle studied by 15N NMR relaxation, Biochemistry., 39, 6634, 10.1021/bi992076h · DOI
  49. Sheehan, 1947, An improved method of staining leucocyte granules with Sudan black B, J. Pathol. Bacteriol., 59, 336, 10.1002/path.1700590142 · DOI
  50. Single, 1998, Simultaneous release of adenylate kinase and cytochrome c in cell death, Cell Death Differ., 5, 1001, 10.1038/sj.cdd.4400462 · DOI
  51. Sood, 2006, Methods for reverse genetic screening in zebrafish by resequencing and TILLING, Methods., 39, 220, 10.1016/j.ymeth.2006.04.012 · DOI
  52. Sood, 2013, Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs, PLoS ONE., 8, e57239, 10.1371/journal.pone.0057239 · DOI
  53. Takubo, 2010, Regulation of the HIF-1alpha level is essential for hematopoietic stem cells, Cell Stem Cell., 7, 391, 10.1016/j.stem.2010.06.020 · DOI · Paper page
  54. Thisse, 2008, High-resolution in situ hybridization to whole-mount zebrafish embryos, Nat. Protoc., 3, 59, 10.1038/nprot.2007.514 · DOI
  55. Warlich, 2011, Lentiviral vector design and imaging approaches to visualize the early stages of cellular reprogramming, Mol. Ther., 19, 782, 10.1038/mt.2010.314 · DOI
  56. Whitford, 2007, Conformational transitions of adenylate kinase: switching by cracking, J. Mol. Biol., 366, 1661, 10.1016/j.jmb.2006.11.085 · DOI

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Metadata

Authors
Rissone, A., Weinacht, K. G., la Marca, G., Bishop, K., Giocaliere, E., Jagadeesh, J., Felgentreff, K., Dobbs, K., Al-Herz, W., Jones, M., Chandrasekharappa, S., Kirby, M., Wincovitch, S., Simon, K. L., Itan, Y., DeVine, A., Schlaeger, T., Schambach, A., Sood, R., Notarangelo, L. D., & Candotti, F.
Venue
Journal of Experimental Medicine
Publisher
Rockefeller University Press
Published
2015-07-06
Volume
212
Issue
8
Pages
1185-1202
ISSN
  • 1540-9538
  • 0022-1007
DOI
10.1084/jem.20141286
PMC
PMC4516804
Cited by
63
References
3
Language
en

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