Potential implications of cell therapy for osteogenesis imperfecta

International Journal of Clinical Rheumatology

Volumn 4, Issue 1, 2009, Pages 57-66

  Niyibizi, Christopher ^a   Li, Feng ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

Bone fragility; Gene therapy; Osteogenesis imperfecta; Stem cells

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; OLIGONUCLEOTIDE; RIBOZYME;

BONE FRAGILITY; CLINICAL TRIAL; GENE THERAPY; GENETIC DISORDER; HUMAN; MESENCHYMAL STEM CELL; NONHUMAN; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; REVIEW; STEM CELL TRANSPLANTATION;

EID: 71049120290     PISSN: 17584272     EISSN: None     Source Type: Journal    
DOI: 10.2217/17584272.4.1.57     Document Type: Review

References (70)

1. Pollitt R, McMahon R, Nunn J et al.: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta Type I-IV. Hum. Mutat. 27, 716-722 (2006).
2. Prockop DJ: Mutations in collagen genes as a cause of connective tissue diseases. N. Engl. J. Med. 326, 540-546 (1992).
3. Morello R, Bertin TK, Chen Y et al.: CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127, 291-304 (2006).
4. Cabral WA, Chang W, Barnes AM et al.: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat. Genet. 39, 359-365 (2007).
5. Barnes AM, Chang W, Morello R et al.: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N. Engl. J. Med. 355, 2757-2764 (2006).
6. MacDougall M, Dong J, Acevedo AC: Molecular basis of human dentin diseases. Am. J. Med. Genet. A 140, 2536-2546 (2006).
7. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 16, 101-116 (1979).
8. Martin E, Shapiro JR: Osteogenesis imperfecta:epidemiology and pathophysiology. Curr. Osteoporos. Rep. 5, 91-97 (2007).
9. Niyibizi C, Wang S, Mi Z, Robbins PD: Gene therapy approaches for osteogenesis imperfecta. Gene Ther. 11, 408-416 (2004).
10. Forlino A, Marini JC: Osteogenesis imperfecta and molecular therapeutics. Mol. Genet. Metab. 71, 225-232 (2000).
11. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R: Osteogenesis imperfecta Type VI: a form of brittle bone disease with a mineralization defect. J. Bone Miner. Res. 17, 30-38 (2002).
12. Glorieux FH, Rauch F, Plotkin H et al.: Type V osteogenesis imperfecta: a new form of brittle bone disease. J. Bone Miner. Res. 15, 1650-1658 (2000).
13. Ward LM, Rauch F, Travers R et al.: Osteogenesis imperfecta Type VII: an autosomal recessive form of brittle bone disease. Bone 31, 12-18 (2002).
14. Marini JC, Cabral WA, Barnes AM, Chang W: Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 6, 1675-1681 (2007).
15. Baldridge D, Schwarze U, Morello R et al.: CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum. Mutat. 29, 1435-1442 (2008).
16. Uveges TE, Collin-Osdoby PC, Cabral WA et al.: Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. J. Bone Miner. Res. 23, 1983-1994 (2008).
17. Lisse TS, Thiele F, Fuchs H et al.: ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet. 4, E7 (2008).
18. Inzerillo AM, Zaidi M, Huang CL: Calcitonin: physiological actions and clinical applications. J. Pediatr. Endocrinol. Metab. 17, 931-940 (2004).
19. Robinson RF, Long LD, Mahan JD: Treatment of poor linear growth in a patient with osteogenesis imperfecta Type III. Clin. Ther. 26, 1680-1683 (2004).
20. Glorieux FH: Osteogenesis imperfecta. Best Pract. Res. Clin. Rheumatol. 22, 85-100 (2008).
21. Land C, Rauch F, Glorieux FH: Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta. J. Bone Miner. Res. 21, 374-379 (2006).
22. Papapoulos SE, Cremers SC: Prolonged bisphosphonate release after treatment in children. N. Engl. J. Med. 356, 1075-1076 (2007).
23. Rauch F, Cornibert S, Cheung M, Glorieux FH: Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone 40, 821-827 (2007).
24. Camacho NP, Raggio CL, Doty SB et al.: A controlled study of the effects of alendronate in a growing mouse model of osteogenesis imperfecta. Calcif. Tissue Int. 69, 94-101 (2001).
25. Hochedlinger K, Rideout WM, Kyba M, Daley GO, Blelloch R, Jaenisch R: Nuclear transplantation, embryonic stem cells and potential for cell therapy. Hematol. J. 5(Suppl. 3), S114-S117 (2004).
26. Meissner A, Jaenisch R: Generation of nuclear transfer-derived pluripotent ES cells from cloned Cdx2-deficient blastocysts. Nature 439, 212-215 (2006).
27. Beyhan Z, Iager AE, Cibelli JB: Interspecies nuclear transfer: implications for embryonic stem cell biology. Cell Stem Cell 1, 502-512 (2007).
28. Takahashi K, Yamanaka S: Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126, 663-676 (2006).
29. Wernig M, Meissner A, Foreman R et al.: In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state. Nature 448, 318-324 (2007).
30. Takahashi K, Tanabe K, Ohnuki M et al.: Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131, 861-872 (2007).
31. Yu J, Thompson JA: Induced pluripotent stem cell lines derived from human somatic cells. Science 318, 1917-1920 (2007).
32. Hanna J, Wernig M, Markoulaki S et al.: Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 318, 1920-1923 (2007).
33. Friedenstein AJ, Chailakhyan RK, Gerasimov UV: Bone marrow osteogenic stem cells: in vitro cultivation and transplantation in diffusion chambers. Cell Tissue Kinet. 20, 263-272 (1987).
34. Caplan AI: Adult mesenchymal stem cells for tissue engineering versus regenerative medicine. J. Cell. Physiol. 213, 341-347 (2007).
35. Gimble JM, Katz AJ, Bunnell BA: Adipose-derived stem cells for regenerative medicine. Circ. Res. 100, 1249-1260 (2007).
36. Cerletti M, Jurga S, Witczak CA et al.: Highly efficient, functional engraftment of skeletal muscle stem cells in dystrophic muscles. Cell 134, 37-47 (2008).
37. Jones BJ, McTaggart SJ: Immunosuppression by mesenchymal stromal cells: from culture to clinic. Exp. Hematol. 36, 733-741 (2008).
38. +) cells in NOD/SCID mice. Exp. Hematol. 31, 881-889 (2003).
39. Almeida-Porada G, Flake AW, Glimp HA, Zanjani ED: Cotransplantation of stroma results in enhancement of engraftment and early expression of donor hematopoietic stem cells in utero. Exp. Hematol. 27, 1569-1575 (1999).
40. Rieger K, Marinets O, Fietz T et al.: Mesenchymal stem cells remain of host origin even a long time after allogeneic peripheral blood stem cell or bone marrow transplantation. Exp. Hematol. 33, 605-611 (2005).
41. Anjos-Afonso F, Siapati EK, Bonnet D: In vivo contribution of murine mesenchymal stem cells into multiple cell-types under minimal damage conditions. J. Cell Sci. 117, 655-5664 (2004).
42. Simmons PJ, Przepiorka D, Thomas ED, Torok-Storb B: Host origin of marrow stromal cells following allogeneic bone marrow transplantation. Nature 328, 429-432 (1997).
43. Wang L, Liu Y, Kalajzic Z et al.: Heterogeneity of engrafted bone-lining cells after systemic and local transplantation. Blood 106, 3650-3657 (2005).
44. Nesselmann C, Ma N, Bieback K et al.: Mesenchymal stem cells and cardiac repair. J. Cell. Mol. Med. 12, 1795-1810 (2008).
45. Tu Q, Valverde P, Li S, Zhang J, Yang P, Chen J: Osterix overexpression in mesenchymal stem cells stimulates healing of critical-sized defects in murine calvarial bone. Tissue Eng. 13, 2431-2440 (2007).
46. Tuan RS: Stemming cartilage degeneration: adult mesenchymal stem cells as a cell source for articular cartilage tissue engineering. Arthritis Rheum. 54, 3075-3078 (2006).
47. Amado LC, Saliaris AP, Schuleri KH et al.: Cardiac repair with intramyocardial injection of allogeneic mesenchymal stem cells after myocardial infarction. Proc. Natl Acad. Sci. USA 102, 11474-11479 (2005).
48. Pereira RF, Halford KW, O'Hara MD et al.: Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage and lung in irradiated mice. Proc. Natl Acad. Sci. USA 92, 4857-4861 (1995).
49. Pereira RF, O'Hara MD, Laptev AV et al.: Marrow stromal cells as a source of progenitor cells for non hematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta. Proc. Natl Acad. Sci. USA 95, 1142-1147 (1988).
50. Nilsson SK, Dooner MS, Weier HU et al.: Cells capable of bone production engraft from whole bone marrow transplants in non-ablated mice. J. Exp. Med. 189, 729-734 (1999).
51. Wang X, Li F, Niyibizi C: Progenitors systemically transplanted into neonatal mice localize to areas of active bone formation in vivo: implications of cell therapy for skeletal diseases. Stem Cells 24, 1869-1878 (2006).
52. Liechty KW, Mackenzie TC, Shaaban A et al.: Human mesenchymal stem cells engraft and demonstrate site specific differentiation after in utero transplantation in sheep. Nat. Med. 6, 1282-1286 (2000).
53. Niyibizi C, Wang S, Mi Z, Robbins PD: The fate of mesenchymal stem cells transplanted into immunocompetent neonatal mice: implications for skeletal gene therapy via stem cells. Mol. Ther. 9, 955-963 (2004).
54. Horwitz EM, Prockop DJ, Fitzpatrick LA et al.: Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat. Med. 5, 309-313 (1999).
55. Horwitz EM, Prockop DJ, Gordon PL et al.: Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 97, 1227-1231 (2001).
56. Horwitz EM, Gordon PL, Koo WK et al.: Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Proc. Natl Acad. Sci. USA 99, 8932-8937 (2002).
57. Le Blanc K, Götherström C, Ringdén O et al.: Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 79, 1607-1614 (2005).
58. Li F, Wang X and Niyibizi C: Distribution of single-cell expanded marrow derived progenitors in a developing mouse model of osteogenesis imperfecta following systemic transplantation. Stem Cells 25, 3183-3193 (2007).
59. Phillips CL, Bradley DA, Schlotzhauer CL et al.: Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density. Bone 27, 219-226 (1999).
60. Chipman SD, Sweet HO, McBride DJ Jr et al.: Defective proα1(I) collagen synthesis in a recessive mutation in mice: a mouse model of osteogenesis imperfecta. Proc. Natl Acad. Sci. USA 90, 1701-1705 (1993).
61. Liao X, Li F, Wang X, Yanoso J, Niyibizi C: Distribution of murine adipose-derived mesenchymal stem cells in vivo following transplantation in developing mice. Stem Cells Dev. 17, 303-314 (2008).
62. Guillot PV, Abass O, Bassett JH et al.: Intrauterine transplantation of human fetal mesenchymal stem cells from first-trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice. Blood 111, 1717-1725 (2008).
63. Guillot PV, Cook HT, Pusey CD et al.: Transplantation of human fetal mesenchymal stem cells improves glomerulopathy in a collagen Type I α2-deficient mouse. J. Pathol. 214, 627-636 (2008).
64. Cabral WA, Marini JC: High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am. J. Hum. Genet. 74, 752-760 (2004).
65. Chamberlain JR, Schwarze U, Wang PR et al.: Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science 303, 1198-1201 (2004).
66. Chamberlain JR, Deyle DR, Schwarze U et al.: Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Mol. Ther. 16, 187-193 (2008).
67. Millington-Ward S, McMahon HP, Allen D et al.: RNAi of COL1A1 in mesenchymal progenitor cells. Eur. J. Hum. Genet. 12, 864-866 (2004).
68. Millington-Ward S, McMahon HP, Farrar GJ: Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol. Med. 11, 299-305 (2005).
69. Pochampally RR, Horwitz EM, DiGirolamo CM, Stokes DS, Prockop DJ: Correction of a mineralization defect by overexpression of a wild-type cDNA for COL1A1 in marrow stromal cells (MSCs) from a patient with osteogenesis imperfecta: a strategy for rescuing mutations that produce dominant-negative protein defects. Gene Ther. 12, 1119-1125 (2005).
70. Guillot PV, De Bari C, Dell'accio F, Kurata H, Polak J, Fisk NM: Comparative osteogenic transcription profiling of various fetal and adult mesenchymal stem cell sources. Differentiation 76, 946-957 (2008).