Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells

Nature Medicine

Volumn 12, Issue 12, 2006, Pages 1397-1402

  Mavilio, Fulvio ^a   Pellegrini, Graziella ^a,b   Ferrari, Stefano ^b   Di Nunzio, Francesca ^a   Di Iorio, Enzo ^b   Recchia, Alessandra ^a   Maruggi, Giulietta ^a   Ferrari, Giuliana ^c   Provasi, Elena ^d   Bonini, Chiara ^d   Capurro, Sergio ^e   Conti, Andrea ^a   Magnoni, Cristina ^a   Giannetti, Alberto ^a   De Luca, Michele ^a,b  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b The Veneto Eye Bank Foundation   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e Division of Pediatric Surgery   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; KALININ; RETROVIRUS VECTOR;

ADULT; ANIMAL CELL; ARTICLE; BASEMENT MEMBRANE; BLISTER; CASE REPORT; CELL REGENERATION; CONTROLLED STUDY; DNA MODIFICATION; EPIDERMIS; EPIDERMOLYSIS BULLOSA; EX VIVO GENE TRANSFER; FOLLOW UP; GENE; GENE MUTATION; GENE THERAPY; HAIR FOLLICLE; HUMAN; HUMAN CELL; IMMUNE RESPONSE; KERATINOCYTE; LAMB3 GENE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN SYNTHESIS; SKIN EPITHELIUM; SKIN INFECTION; SKIN INFLAMMATION; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME;

3T3 CELLS; ADULT; ANIMALS; CELL ADHESION MOLECULES; CELLS, CULTURED; EPIDERMIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEASIBILITY STUDIES; GENE THERAPY; GENETIC VECTORS; HUMANS; MALE; MICE; RETROVIRIDAE; STEM CELL TRANSPLANTATION; TISSUE ENGINEERING;

EID: 33845524625     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm1504     Document Type: Article

References (30)

1. Watt, F.M. Stem cell fate and patterning in mammalian epidermis. Curr. Opin. Genet. Dev. 11, 410-417 (2001).
2. Alonso, L. & Fuchs, E. Stem cells of the skin epithelium. Proc. Natl. Acad. Sci. USA 100 (suppl. 1), 11830-11835 (2003).
3. Barrandon, Y. & Green, H. Three clonal types of keratinocyte with different capacities for multiplication. Proc. Natl. Acad. Sci. USA 84, 2302-2306 (1987).
4. Rochat, A., Kobayashi, K. & Barrandon, Y. Location of stemcells of human hair follicles by clonal analysis. Cell 76, 1063-1073 (1994).
5. Pellegrini, G. et al. Location and clonal analysis of stem cells and their differentiated progeny in the human ocular surface. J. Cell Biol. 145, 769-782 (1999).
6. Blanpain, C., Lowry, W.E., Geoghegan, A., Polak, L. & Fuchs, E. Self-renewal, multipotency, and the existence of two cell populations within an epithelial stem cell niche. Cell 118, 635-648 (2004).
7. Gallico, G.G., III, O'Connor, N.E., Compton, C.C., Kehinde, O. & Green, H. Permanent coverage of large burn wounds with autologous cultured human epithelium. N. Engl. J. Med. 311, 448-451 (1984).
8. Romagnoli, G. et al. Treatment of posterior hypospadias by the autologous graft of cultured urethral epithelium. N. Engl. J. Med. 323, 527-530 (1990).
9. Pellegrini, G. et al. Long-term restoration of damaged corneal surfaces with autologous cultivated corneal epithelium. Lancet 349, 990-993 (1997).
10. Christiano, A.M. & Uitto, J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp. Dermatol. 5, 1-11 (1996).
11. Posteraro, P. et al. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem. Biophys. Res. Commun. 243, 758-764 (1998).
12. Guerra, L. et al. Treatment of "stable" vitiligo by Timedsurgery and transplantation of cultured epidermal autografts. Arch. Dermatol. 136, 1380-1389 (2000).
13. Mills, A.A. et al. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398, 708-713 (1999).
14. Yang, A. et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398, 714-718 (1999).
15. Parsa, R., Yang, A., McKeon, F. & Green, H. Association of p63 with proliferative potential in normal and neoplastic human keratinocytes. J. Invest. Dermatol. 113, 1099-1105 (1999).
16. Pellegrini, G. et al. p63 identifies keratinocyte stem cells. Proc. Natl. Acad. Sci. USA 98, 3156-3161 (2001).
17. Di Iorio, E. et al. Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. Proc. Natl. Acad. Sci. USA 102, 9523-9528 (2005).
18. Parker, K.C., Bednarek, M.A. & Coligan, J.E. Scheme for ranking potential HLA-A2 binding peptides based on independent binding of individual peptide side-chains. J. Immunol. 152, 163-175 (1994).
19. Manici, S. et al. Melanoma cells present a MAGE-3 epitope to CD4+ cytotoxic T cells in association with histocompatibility leukocyte antigen DR11. J. Exp. Med. 189, 871-876 (1999).
20. Pellegrini, G. et al. The control of epidermal stem cells (holoclones) in the treatment of massive full-thickness burns with autologous keratinocytes cultured on fibrin. Transplantation 68, 868-879 (1999).
21. Bushman, F. et al. Genome-wide analysis of retroviral DNA integration. Nat. Rev. Microbiol. 3, 848-858 (2005).
22. De Luca, M., Pellegrini, G. & Green, H. Regeneration of squamous epithelia from stem cells of cultured grafts. Regenerative Med. 1, 45-57 (2006).
23. Hacein-Bey-Abina, S. et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302, 415-419 (2003).
24. Gaspar, H.B. et al. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364, 2181-2187 (2004).
25. Aiuti, A. et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410-2413 (2002).
26. Recchia, A. et al. Retroviral vector integration deregulates gene expression but has no consequence on the biology and function of transplanted T cells. Proc. Natl. Acad. Sci. USA 103, 1457-1462 (2006).
27. Ott, M.G. et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat. Med. 12, 401-409 (2006).
28. Dellambra, E. et al. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Hum. Gene Ther. 9, 1359-1370 (1998).
29. Mathor, M.B. et al. Clonal analysis of stably transduced human epidermal stem cells in culture. Proc. Natl. Acad. Sci. USA 93, 10371-10376 (1996).
30. Krall, W.J. et al. Increased levels of spliced RNA account for augmented expression from the MFG retroviral vector in hematopoietic cells. Gene Ther. 3, 37-48 (1996).