Laminin 332 in junctional epidermolysis bullosa

Cell Adhesion and Migration

Volumn 7, Issue 1, 2013, Pages 135-141

  Kiritsi, Dimitra ^a   Has, Cristina ^a   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Basement membrane; Blistering; Granulation tissue; Hemidesmosome; Skin fragility

Indexed keywords

LAMININ; MESSENGER RNA; RETROVIRUS VECTOR; WOUND HEALING PROMOTING AGENT;

BLISTER; CELL ADHESION; CELL DIFFERENTIATION; CLINICAL FEATURE; CODON; EPIDERMOLYSIS BULLOSA; EX VIVO GENE TRANSFER; EXON; FOLLOW UP; GENE MUTATION; GENOTYPE; HUMAN; JUNCTIONAL EPIDERMOLYSIS BULLOSA HERLITZ; MOLECULAR DIAGNOSIS; MOLECULAR THERAPY; MORTALITY; NONHUMAN; PHENOTYPE; PROGNOSIS; REVIEW;

EID: 84872191021     PISSN: 19336918     EISSN: 19336926     Source Type: Journal    
DOI: 10.4161/cam.22418     Document Type: Review

References (68)

1. Sugawara K, Tsuruta D, Ishii M, Jones JC, Kobayashi H. Laminin-332 and -511 in skin. Exp Dermatol 2008; 17:473-80; PMID:18474082; http://dx.doi.org/10. 1111/j.1600-0625.2008.00721.x
2. Laimer M, Lanschuetzer CM, Diem A, Bauer JW. Herlitz junctional epidermolysis bullosa. Dermatol Clin 2010; 28:55-60; PMID:19945616; http://dx.doi.org/10.1016/j.det.2009.10.006
3. Has C, Bruckner-Tuderman L. [Epidermolysis bullosa : Diagnosis and therapy]. Hautarzt 2011; 62:82-90; PMID:21271234; http://dx.doi.org/10.1007/ s00105-010-2049-x
4. Van Agtmael T, Bruckner-Tuderman L. Basement membranes and human disease. Cell Tissue Res 2010; 339:167-88; PMID:19756754; http://dx.doi.org/10.1007/ s00441-009-0866-y
5. Behrens DT, Villone D, Koch M, Brunner G, Sorokin L, Robenek H, et al. The epidermal basement membrane is a composite of separate laminin- or collagen IV-containing networks connected by aggregated perlecan, but not by nidogens. J Biol Chem 2012; 287:18700-9; PMID:22493504; http://dx.doi.org/10.1074/jbc.M111. 336073
6. Aumailley M, El Khal A, Knöss N, Tunggal L. Laminin 5 processing and its integration into the ECM. Matrix Biol 2003; 22:49-54; PMID:12714041; http://dx.doi.org/10.1016/S0945-053X(03)00013-1
7. Rousselle P, Keene DR, Ruggiero F, Champliaud MF, Rest M, Burgeson RE. Laminin 5 binds the NC-1 domain of type VII collagen. J Cell Biol 1997; 138: 719-28; PMID:9245798; http://dx.doi.org/10.1083/jcb.138.3.719
8. Aumailley M, Bruckner-Tuderman L, Carter WG, Deutzmann R, Edgar D, Ekblom P, et al. A simplified laminin nomenclature. Matrix Biol 2005; 24:326-32; PMID:15979864; http://dx.doi.org/10.1016/j.matbio.2005.05.006
9. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, 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; 58:931-50; PMID:18374450; http://dx.doi.org/10.1016/j. jaad.2008.02.004
10. Chiang LY, Poole K, Oliveira BE, Duarte N, Sierra YA, Bruckner-Tuderman L, et al. Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons. Nat Neurosci 2011; 14:993-1000; PMID:21725315; http://dx.doi.org/10.1038/nn.2873
11. Fine JD, Johnson LB, Weiner M, Suchindran C. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol 2004; 29:122-7; PMID:14987264; http://dx.doi.org/10.1111/j.1365-2230. 2004.01428.x
12. Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Br J Dermatol 2011; 165:1314-22; PMID:21801158; http://dx.doi.org/10.1111/j.1365-2133.2011. 10553.x
13. Bruckner-Tuderman L. [Skin and teeth]. J Dtsch Dermatol Ges 2005; 3:327-8; PMID:16372798
14. Fine JD, Johnson LB, Weiner M, Stein A, Cash S, Deleoz J, et al. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. Am J Ophthalmol 2004; 138:254-62; PMID:15289135; http://dx.doi.org/10.1016/j.ajo.2004.03.034
15. Fine JD, Johnson LB, Weiner M, Suchindran C. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 2007; 117:1652-60; PMID:17762793; http://dx.doi.org/10.1097/MLG.0b013e318093ed8e
16. Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLeoz J, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. J Urol 2004; 172:2040-4; PMID:15540785; http://dx.doi.org/10.1097/01.ju.0000143200. 86683.2c
17. Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet 2011; 48:450-7; PMID:21357940; http://dx.doi.org/10.1136/ jmg.2010.086751
18. McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngoonycho-cutaneous syndrome. Hum Mol Genet 2003; 12:2395-409; PMID:12915477; http://dx.doi.org/10. 1093/hmg/ddg234
19. Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, et al. Laryngo-onycho-cutaneous syndrome. Ophthalmology 2010; 117:1056-e2, e2; PMID:20438980; http://dx.doi.org/10.1016/j.ophtha.2009.11.019
20. Rousselle P, Lunstrum GP, Keene DR, Burgeson RE. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 1991; 114:567-76; PMID: 1860885; http://dx.doi.org/10.1083/jcb.114.3.567
21. Rousselle P, Aumailley M. Kalinin is more efficient than laminin in promoting adhesion of primary keratinocytes and some other epithelial cells and has a different requirement for integrin receptors. J Cell Biol 1994; 125:205-14; PMID:8138572; http://dx.doi.org/10.1083/jcb.125.1.205
22. Champliaud MF, Lunstrum GP, Rousselle P, Nishiyama T, Keene DR, Burgeson RE. Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. J Cell Biol 1996; 132:1189-98; PMID:8601594; http://dx.doi.org/10. 1083/jcb.132.6.1189
23. McMillan JR, McGrath JA, Pulkkinen L, Kon A, Burgeson RE, Ortonne JP, et al. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 1997; 136:817-22; PMID:9217810; http://dx.doi.org/10.1111/j.1365-2133.1997.tb03918.x
24. McMillan JR, Akiyama M, Shimizu H. Ultrastructural orientation of laminin 5 in the epidermal basement membrane: an updated model for basement membrane organization. J Histochem Cytochem 2003; 51:1299-306; PMID:14500698; http://dx.doi.org/10.1177/002215540305101007
25. Marinkovich MP, Lunstrum GP, Keene DR, Burgeson RE. The dermal-epidermal junction of human skin contains a novel laminin variant. J Cell Biol 1992; 119: 695-703; PMID:1383241; http://dx.doi.org/10.1083/jcb.119.3.695
26. Matsui C, Nelson CF, Hernandez GT, Herron GS, Bauer EA, Hoeffler WK. Gamma 2 chain of laminin-5 is recognized by monoclonal antibody GB3. J Invest Dermatol 1995; 105:648-52; PMID:7594636; http://dx.doi.org/10.1111/1523-1747. ep12324108
27. Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43:641-52; PMID:16473856; http://dx.doi.org/10.1136/jmg.2005.039685
28. Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, et al. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 1997; 109:232-7; PMID:9242513; http://dx.doi.org/10.1111/1523-1747.ep12319752
29. Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet 2005; 116:33-42; PMID:15538630; http://dx.doi.org/10. 1007/s00439-004-1210-y
30. Castori M, Floriddia G, De Luca N, Pascucci M, Ghirri P, Boccaletti V, et al. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol 2008; 158:38-44; PMID:17916201
31. Kon A, Pulkkinen L, Hara M, Tamai K, Tagami H, Hashimoto I, et al. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Hum Mutat 1998; 12:288; PMID:10660342
32. Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 2002; 110:41-51; PMID:11810295; http://dx.doi.org/10.1007/s00439-001-0630-1
33. Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, et al. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 2002; 46:510-6; PMID:11907499; http://dx.doi.org/10.1067/mjd.2002.119673
34. Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, et al. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet 2001; 10:2453-61; PMID:11689492; http://dx.doi.org/10.1093/hmg/10.21.2453
35. Hamill KJ, Paller AS, Jones JC. Adhesion and migration, the diverse functions of the laminin alpha3 subunit. Dermatol Clin 2010; 28:79-87; PMID:19945619; http://dx.doi.org/10.1016/j.det.2009.10.009
36. Pacho F, Zambruno G, Calabresi V, Kiritsi D, Schneider H. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. J Med Genet 2011; 48:640-4; PMID:21693480; http://dx.doi.org/10.1136/jmg.2011.089615
37. Floeth M, Bruckner-Tuderman L. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet 1999; 65:1530-7; PMID:10577906; http://dx.doi.org/10.1086/302672
38. Lai-Cheong JE, McGrath JA, Uitto J. Revertant mosaicism in skin: natural gene therapy. Trends Mol Med 2011; 17:140-8; PMID:21195026; http://dx.doi.org/ 10.1016/j.molmed.2010.11.003
39. Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88:543-51; PMID:9038345; http://dx.doi.org/10.1016/S0092-8674(00) 81894-2
40. Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Invest Dermatol 2012; 132:1374-83; PMID:22318390; http://dx.doi.org/10.1038/jid.2011.477
41. Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, et al. Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. J Clin Invest 2012; 122: 1742-6; PMID:22466645; http://dx.doi.org/10.1172/JCI61976
42. Almaani N, Nagy N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Clements SE, et al. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2010; 130:1937-40; PMID: 20357813; http://dx.doi.org/10.1038/ jid.2010.64
43. Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol 2002; 118:626-30; PMID:11918708; http://dx.doi.org/10.1046/j.1523-1747.2002.01715.x
44. Pasmooij AM, 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; 117:1240-8; PMID: 17476356; http://dx.doi.org/10.1172/JCI30465
45. Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol 2010; 130:1485-8; PMID: 20463671; http://dx.doi.org/10.1038/jid.2010.75
46. Jiang QJ, Uitto J. Animal models of epidermolysis bullosa-targets for gene therapy. J Invest Dermatol 2005; 124:xi-xiii; PMID:15812910; http://dx.doi.org/10.1111/j.0022-202X.2005.23652.x
47. Durbeej M. Laminins. Cell Tissue Res 2010; 339:259-68; PMID:19693542; http://dx.doi.org/10.1007/s00441-009-0838-2
48. Kuster JE, Guarnieri MH, Ault JG, Flaherty L, Swiatek PJ. IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mamm Genome 1997; 8:673-81; PMID:9271670; http://dx.doi.org/10.1007/s003359900535
49. Ryan MC, Lee K, Miyashita Y, Carter WG. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol 1999; 145:1309-23; PMID:10366601; http://dx.doi.org/10.1083/jcb.145.6.1309
50. Abrass CK, Berfield AK, Ryan MC, Carter WG, Hansen KM. Abnormal development of glomerular endothelial and mesangial cells in mice with targeted disruption of the lama3 gene. Kidney Int 2006; 70:1062-71; PMID:16850021; http://dx.doi.org/10.1038/sj.ki.5001706
51. Meng X, Klement JF, Leperi DA, Birk DE, Sasaki T, Timpl R, et al. Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol 2003; 121:720-31; PMID:14632187; http://dx.doi.org/10.1046/j.1523-1747.2003.12515.x
52. Nguyen NM, Pulkkinen L, Schlueter JA, Meneguzzi G, Uitto J, Senior RM. Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation. Respir Res 2006; 7:28; PMID: 16483354; http://dx.doi.org/10.1186/1465-9921-7-28
53. Graves KT, Henney PJ, Ennis RB. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 2009; 40:35-41; PMID:19016681; http://dx.doi.org/ 10.1111/j.1365-2052.2008.01795.x
54. Lieto LD, Swerczek TW, Cothran EG. Equine epitheliogenesis imperfecta in two american saddlebred foals is a lamina lucida defect. Vet Pathol 2002; 39:576-80; PMID: 12243468; http://dx.doi.org/10.1354/vp.39-5-576
55. Mömke S, Kerkmann A, Wöhlke A, Ostmeier M, Hewicker-Trautwein M, Ganter M, et al. International Sheep Consortium. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 2011; 6:e18943; PMID:21573221; http://dx.doi.org/10.1371/journal.pone.0018943
56. Brenneman KA, Olivry T, Dorman DC. Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. Vet Pathol 2000; 37:336-9; PMID:10896395; http://dx.doi.org/10.1354/vp.37- 4-336
57. Capt A, Spirito F, Guaguere E, Spadafora A, Ortonne JP, Meneguzzi G. Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 2005; 124:530-5; PMID:15737193; http://dx.doi.org/10.1111/j.0022-202X.2004.23584.x
58. Alhaidari Z, Olivry T, Spadafora A, Thomas RC, Perrin C, Meneguzzi G, et al. Junctional epidermolysis bullosa in two domestic shorthair kittens. Vet Dermatol 2005; 16:69-73; PMID:15725108; http://dx.doi.org/10.1111/j.1365-3164. 2005.00420.x
59. Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol 2012; 167:374-82; PMID: 22512697; http://dx.doi.org/10. 1111/j.1365-2133.2012.10997.x
60. Kho YC, Rhodes LM, Robertson SJ, Su J, Varigos G, Robertson I, et al. Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. Arch Dermatol 2010; 146:635-40; PMID:20566927; http://dx.doi.org/10. 1001/archdermatol.2010.109
61. Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol 2010; 130:1778-84; PMID:20393479; http://dx.doi.org/10.1038/jid.2010.90
62. Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. J Invest Dermatol 2012; 132:820-8; PMID:22158553; http://dx.doi.org/10.1038/jid.2011.389
63. Salas-Alanis JC, Cepeda-Valdes R, Mellerio JE, Christiano AM, Uitto J. Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*. Int J Dermatol 2012; 51:682-7; PMID:22607285; http://dx.doi.org/10.1111/j.1365- 4632.2011.05130.x
64. Aumailley M, Has C, Tunggal L, Bruckner-Tuderman L. Molecular basis of inherited skin-blistering disorders, and therapeutic implications. Expert Rev Mol Med 2006; 8:1-21; PMID:17040578; http://dx.doi.org/10.1017/S1462399406000123
65. Mavilio F, Pellegrini G, Ferrari S, Di Nunzio F, Di Iorio E, Recchia A, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 2006; 12:1397-402; PMID:17115047; http://dx.doi.org/10.1038/nm1504
66. De Luca M, Pellegrini G, Mavilio F. Gene therapy of inherited skin adhesion disorders: a critical overview. Br J Dermatol 2009; 161:19-24; PMID:19466960; http://dx.doi.org/10.1111/j.1365-2133.2009.09243.x
67. Jonkman MF, Pasmooij AM. Realm of revertant mosaicism expanding. J Invest Dermatol 2012; 132:514-6; PMID:22327264; http://dx.doi.org/10.1038/jid.2011.445
68. Gostynski A, Deviaene FC, Pasmooij AM, Pas HH, Jonkman MF. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol 2009; 161:444-7; PMID: 19416258; http://dx.doi.org/10.1111/j.1365-2133.2009.09118.x