Oral Presentation ASPCR-ASDR Conference 2013

Filaggrin-null mice exhibit impaired stratum corneum barrier and enhanced percutaneous immune responses     (#61)

Hiroshi Kawasaki 1 , Keisuke Nagao 1 , Akiharu Kubo 1 2 , Tsuyoshi Hata 1 3 , Hideaki Mizuno 4 , Taketo Yamada 5 , Masayuki Amagai 1
  1. Dermatology, Keio University School of Medicine, Tokyo, Japan
  2. the Center for Integrated Medical Research, Keio University School of Medicine, Tokyo, Japan
  3. KOSÉ Corporation, Tokyo, Japan
  4. Brain Science Institute, RIKEN, Wako, Japan
  5. Pathology, Keio University School of Medicine, Tokyo, Japan

Loss-of-function mutations in filaggrin gene are major predisposing factors for atopic dermatitis (AD). Although various reports suggest that filaggrin contributes stratum corneum (SC) barrier formation, the lack of filaggrin-null animal model has hampered progress to elucidate the pathogenic mechanism. Flaky tail / matted (ft/ma) mice have been used as a model of filaggrin deficiency, however these mice do not present complete loss of filaggrin and have unknown gene mutation “matted”. Therefore, we generated filaggrin-null (Flg-/-) mice and evaluated the impact of filaggrin loss in vivo. Flg-/- mice showed dry and scaly skin, but did not develop spontaneous dermatitis, in contrast to ft/ma mice. Despite of decreased natural moisturizing factor level in Flg-/- mice, which are degradation products of filaggrin, water content and transepidermal water loss were not affected in Flg-/- SC, indicating that hydration status of SC might not correlate with dry skin manifestation and natural moisturizing factor level. Histological observation suggested the premature detachment of cornified layer in Flg-/- mice, and tape stripping analysis demonstrated that Flg-/- SC were more fragile and more susceptible to physical stress. Loss of keratin pattern, which is important for maintaining SC integrity, was observed in Flg-/- SC using electron microscopy, and it is likely attributable to fragility in Flg-/- SC. Increased penetration of substances into SC was confirmed by permeability assay using liposome-encapsulated calcein. Barrier defect in Flg-/- mice led to enhanced hapten-induced contact hypersensitivity responses and humoral responses to topically immunized protein antigen, but the responses in ft/ma mice were constantly stronger, suggesting an additional role for matted. Our Flg-/- mice represent pure filaggrin deficiency, and should provide a valuable tool to dissect the function of SC, especially in the context of AD.