SIGNIFICANCE OF FILAGGRIN IN DEVELOPMENT OF ATOPICDERMATITIS



Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

In presented article modern data about relationship of filaggrin mutation with development and clinic
manifestation of atopic dermatitis are summarized.

About the authors

E E Varlamov

A N Pampura

Email: apampura@pedklin.ru

E E Varlamov

Moscow Research Institute of Pediatric and Child Surgery

Moscow Research Institute of Pediatric and Child Surgery

A N Pampura

Moscow Research Institute of Pediatric and Child Surgery

Moscow Research Institute of Pediatric and Child Surgery

References

  1. Bieber Т., Leung D. Atopic dermatitis. 2002, New York: Marcel Dekker.
  2. Elias P.M., Wood L.C., Feingold K.R. Epidermal pathogenesis of inflammatory dermatoses. Am. J. Contact Dermatol. 1999, v. 10, p. 119-126.
  3. Taieb A. Hypothesis: from epidermalbarrier dysfunction to atopic disorders. Contact Dermatitis. 1999, v. 41, p. 177-180.
  4. Lavker R.M., Matoltsy A.G. Formation of horny cells: the fate of organelles and differentiation products in ruminal epithelium. J. Cell Biol. 1970, v. 44, p. 501-512.
  5. Elias P., Feingold K. Skin Barrier. Informa Healthcare. New York, London. 2005, p. 632.
  6. Gan S.Q., McBride O.W., Idler W.W. et al. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry. 1990, v. 29, p. 9432-9440.
  7. McKinley-Grant L.J., Idler W.W., Bernstein L.A. et al. Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region lq21. Proc. Natl. Acad. Sci. USA. 1989, v. 86, p. 4848-4852.
  8. Presland R.B., Haydock P.V., Fleckman P. et al. Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. J. Biol. Chem. 1992, v. 267, p. 23772-23781.
  9. Pearton D.J., Dale B.A., Presland R.B. Functional analysis of the profilaggrin N- terminal peptide: identification of domains that regulate nuclear and cytoplasmic distribution. J. Invest. Dermatol. 2002, v. 119, p. 661-669.
  10. Presland R.B., Kimball J.R., Kautsky M.B. et al. Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation. J. Invest. Dermatol. 1997, v. 108, p. 170-178.
  11. Ishida-Yamamoto A., Takahashi H., Presland R. et al. Translocation of profilaggrin N-terminal domain into keratinocyte nuclei with fragmented DNA in normal human skin and loricrin keratoderma. Lab. Invest. 1998, v. 78, p. 1245-1253.
  12. Kam E., Resing K.A., Lim S.K. et al. Identification of rat epidermal profilaggrin phosphatase as a member of the protein phosphatase 2A family. J. Cell Sci. 1993, v. 106, p. 219-226.
  13. Ishida-Yamamoto A., Senshu T., Eady R.A. et al. Sequential reorganization of cornifield cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination. J. Invest. Dermatol. 2002, v. 118, p. 282-287.
  14. Nachat R., Mechin M.C., Takahara H. et al. Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of Kl and filaggrin. J. Invest. Dermatol. 2005, v. 124, p. 384-393.
  15. Tarcsa E., Marekov L.N., Mei G. et al. Protein unfolding by peptidylarginine deiminase: substrate specificity and structural relationships of the natural substrates trichohyalin and filaggrin. J. Biol. Chem. 1996, v. 271, p. 30709-30716.
  16. Kamata Y., Taniguchi A., Yamamoto M. et al. Neutral cysteine protease bleomycin hydrolase is essential for the breakdown of deiminated filaggrin into amino acids. J. Biol. Chem. 2009 [Epub ahead of print, 13th March] doi: 10.1074/jbc. M807908200.
  17. Rawlings A.V., Harding C.R. Moisturization and skin barrier function. Dermatol. Ther. 17 Suppl. 2004, v. 1, p. 43-48.
  18. Krien R., Kermici M. Evidence for the existence of a self-regulated enzymatic process within human stratum corneum-an unexpected role for urocanic acid. J. Invest. Dermatol. 2000, v. 115, p. 414-420.
  19. Schmid-Wendtner M.H., Korting H.C. The pH of the skin surface and its impact on the barrier function. Skin Pharmcol. Physiol. 2006, v. 19, p. 296-302.
  20. Elias P.M., Hatano Y., Williams M.L. Basis for the barrier abnormality in atopic dermatitis. J. Allergy Clin. Immunol. 2008, v. 121, p. 1337-1343.
  21. Katagiri С., Sato J., Nomura J. et al. Changes in environmental humidity affect the water-holding property of the stratum corneum and its free amino acid content, and the expression of filaggrin in the epidermis of hairless mice. J. Dermatol. Sci. 2003, v. 31, p. 29-35.
  22. Fallon P.G., Sasaki Т., Sandilands A. et al. A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming. Nat. Genet. 2009 [Epub ahead of print] doi: 10.1038/ng.358.
  23. Novak N., Allam J.P., Bieber T. Allergic hyperreactivity to microbial components-a trigger factor of «intrinsic» atopic dermatitis? J. Allergy Clin. Immunol. 2000, v. 112, p. 215-216.
  24. Bieber T. Atopic dermatitis. N. Engl. J. Med. 2008, v. 358, p. 1483-1494.
  25. Wood L.C., Elias P.M., Calhoun C. et al. Barrier disruption stimulates interleukin-1 alpha expression and release from a pre-formed pool in murine epidermis. J. Invest. Dermatol. 1996, v. 106, p. 397-403.
  26. Wood L.C., Stalder A.K., Liou A. et al. Barrier disruption increases gene expression of cytokines and the 55 kD TNF receptor in murine skin. Exp. Dermatol. 1997, v. 6, p. 98-104.
  27. Markova N.G., Marekov L.N., Chipev C.C. et al. Profilaggrin is a major epidermal alcium-binding protein. Mol. Cell. Biol. 1993, v. 13,p. 613-625.
  28. Sandilands A., Terron-Kwiatkowski A., Hull P.R. et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat. Genet. 2007, v. 39, p. 650-654.
  29. Smith F..J., Irvine A.D., Terron-Kwiatkowski A. et al. Loss of function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat. Genet. 2006, v. 38, p. 337-342.
  30. Palmer C.N., Irvine A.D., Terron-Kwiatkowski A. et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat. Genet. 2006, v. 38, p. 441-446.
  31. Morar N., Cookson W., Harper J. et al. Filaggrin Mutations in Children with Severe Atopic Dermatitis. Journal of Investigative Dermatology. 2007, v. 127, p. 1667-1672.
  32. Barker J.N.W.N., Palmer C.N.A., Zhao Y. et al.Nullmutations in the filaggrin gene (FLG) determine major susceptibility to earlyonset atopic dermatitis that persists into adulthood. J. Invest. Dermatol. 2007, v. 127, p. 564-567.
  33. Weidinger S., Rodriguez E., Stahl С. et al. Filaggrin Mutations Strongly Predispose to Early Onset and Extrinsic Atopic Dermatitis. Journal of Investigative Dermatology. 2007, v. 127, p. 724-726.
  34. Brown S., Relton C.L., Liao H. et al. Filaggrin null mutations and childhood atopic eczema: A population-based case control study. J. Allergy Clin. Immunol. 2008, v. 121, p. 940-946.
  35. Brown S.J., Relton C.L., Liao H. et al. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. British Journal of Dermatology. 2009, v. 161, p. 884-889.
  36. Nomura Т., Sandilands A., Akiyama M. et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J. Allergy Clin. Immunol. 2007, v. 119, p. 434-440.
  37. Nomura T., Akiyama M., Sandilands A. et al. Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan. Journal of Investigative Dermatology. 2008, v. 128, p. 1436-1441.
  38. Ching G.K., Hon K.L., Ng P.C., Leung T.F. Filaggrin null mutations in childhood atopic dermatitis among the Chinese. Int. J. Immunogenet. 2009, v. 36, p. 251-254.
  39. Zhang H., Guo Y., Wang W. et al. Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. Allergy. 2011, v. 66, p. 420-427.
  40. Irvine A.D. Fleshing Out Filaggrin Phenotypes. Journal of Investigative Dermatology. 2007, v. 127, p. 504-507.
  41. Marenholz I., Nickel R., Ruschendorf F. et al. Filaggrin loss of function mutations predispose to phenotypes involved in the atopic march. J. Allergy Clin. Immunol. 2006, v. 118, p. 866-871.
  42. Weidinger S., Illig L., Baurecht H. etal. Loss of function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J. Allergy Clin. Immunol. 2006, v. 118, p. 214-219.
  43. Bisgaard H., Simpson A., Colin N.A. et al. Gene Environment Interaction in the Onset of Eczema in Infancy: Filaggrin Loss of Function Mutations Enhanced by Neonatal Cat Exposure. PLoS Medicine. 2008, v. 5, p. 131.
  44. Henderson J., Northstone K., Lee S. et al. The burden of disease associated with filaggrin mutations: A population-based, longitudinal birth cohort study. J. Allergy Clin. Immunol. 2008, v. 121, p. 872-877.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright © Pharmarus Print Media, 1970



This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies