Natural gene therapy in dystrophic epidermolysis bullosa

Archives of Dermatology

Volumn 148, Issue 2, 2012, Pages 213-216

  Van Den Akker, Peter C ^a   Nijenhuis, Miranda ^a   Meijer, Gonnie ^a   Hofstra, Robert M W ^a   Jonkman, Marcel F ^a   Pasmooij, Anna M G ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 7; GENOMIC DNA; RNA; TYROSINE;

ADULT; ARTICLE; CASE REPORT; CODON; COL7A1 GENE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; GENE; GENE THERAPY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; MOSAICISM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PUNCH BIOPSY; SKIN BIOPSY;

ADULT; CODON, NONSENSE; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; HOMOZYGOTE; HUMANS; MALE; MOSAICISM; YOUNG ADULT;

EID: 84857388033     PISSN: 0003987X     EISSN: 15383652     Source Type: Journal    
DOI: 10.1001/archdermatol.2011.298     Document Type: Article

References (28)

1. Jonkman MF, Scheffer H, Stulp R, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell. 1997;88(4):543-551. (Pubitemid 27154419)
2. Darling TN, Yee C, Bauer JW, Hintner H, Yancey KB. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest. 1999;103(10):1371-1377. (Pubitemid 29535493)
3. Hirschhorn R. In vivo reversion to normal of inherited mutations in humans.JMed Genet. 2003;40(10):721-728. (Pubitemid 37311069)
4. Jonkman MF, Castellanos Nuijts M, van Essen AJ. Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders. Clin Exp Dermatol. 2003;28(6):625-631. (Pubitemid 37430885)
5. Lai-Cheong JE, McGrath JA, Uitto J. Revertant mosaicism in skin: natural gene therapy. Trends Mol Med. 2011;17(3):140-148.
6. Jonkman MF, Pasmooij AM. Revertant mosaicism-patchwork in the skin.NEngl J Med. 2009;360(16):1680-1682.
7. Pasmooij AMG, Pas HH, Deviaene FCL, Nijenhuis M, Jonkman MF. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet. 2005;77(5):727-740. (Pubitemid 41513276)
8. Pasmooij AMG, Pas HH, Bolling MC, Jonkman MF. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest. 2007;117(5):1240-1248. (Pubitemid 46718412)
9. Smith FJD, Morley SM, McLean WHI. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol. 2004;122(1):73-77. (Pubitemid 38114641)
10. Schuilenga-Hut PHL, Scheffer H, Pas HH, Nijenhuis M, Buys CHCM, Jonkman MF. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol. 2002;118(4):626-630. (Pubitemid 34309981)
11. Al Aboud K, Al Hawsawi K, Ramesh V. Kindler syndrome: two additional features. Dermatol Online J. 2003;9(3):20.
12. Almaani N, Nagy N, Liu L, et al. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010;130(7):1937-1940.
13. Pasmooij AMG, Garcia M, Escamez MJ, et al. Revertant mosaicism due to a secondsite mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010;130(10):2407-2411.
14. Fine J-D, Eady RAJ, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58(6):931-950.
15. van den Akker PC, van Essen AJ, Kraak MMJ, et al. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. J Dermatol Sci. 2009;56(1):9-18.
16. Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J. Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein. J Invest Dermatol. 1997;109(3):390-394. (Pubitemid 27394657)
17. Drobetsky EA, Turcotte J, Châteauneuf A. A role for ultraviolet A in solar mutagenesis. Proc Natl Acad Sci U S A. 1995;92(6):2350-2354.
18. Ghazizadeh S, Taichman LB. Organization of stem cells and their progeny in human epidermis. J Invest Dermatol. 2005;124(2):367-372. (Pubitemid 40175884)
19. Choate KA,LuY,ZhouJ, et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science. 2010;330(6000):94-97.
20. van den Akker PC, Jonkman MF, Rengaw T, et al. The International Dystrophic Epidermolysis Bullosa Patient Registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations [published online ahead of print June 16, 2011]. Hum Mut. doi:10.1002/humu.21551.
21. Almaani N, Liu L, Dopping-Hepenstal PJ, et al. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol. 2011;91(3):262-266.
22. Gostynski A, Deviaene FCL, Pasmooij AMG, Pas HH, Jonkman MF. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol. 2009;161(2):444-447.
23. Bilousova G, Chen J, Roop DR. Differentiation of mouse induced pluripotent stem cells into a multipotent keratinocyte lineage. J Invest Dermatol. 2011;131(4):857-864.
24. Tolar J, Xia L, Riddle MJ, et al. Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2011;131 (4):848-856.
25. Itoh M, Kiuru M, Cairo MS, Christiano AM. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci U S A. 2011;108(21):8797-8802.
26. Mavilio F, Pellegrini G, Ferrari S, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12(12):1397-1402. (Pubitemid 44924498)
27. Wagner JE, Ishida-Yamamoto A, McGrath JA, et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa [published correction appears in N Engl J Med. 2010;363(14):1383]. N Engl J Med. 2010;363(7):629-639.
28. Tolar J, Blazar BR, Wagner JE. Concise review: transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells. 2011;29(6):900-906.