Filaggrin
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Filaggrins are filament-associated proteins which bind to keratin fibers in epidermal cells. Individuals with truncation mutations in the gene coding for filaggrin result in a severe form of dry skin (ichthyosis vulgaris) and strongly predispose to eczema. Scientists hope to develop treatments for eczema through their newfound knowledge of filaggrin. Truncation mutations R501X and 2284del4 are the most common mutations in the caucasian population, with 7-10% of the caucasian population carrying at least one copy of these mutations. It has been shown that almost 50% of all severe cases of eczema may have at least one mutated filaggrin gene. R501X and 2284del4 are not generally found in non-caucasian individuals.
[edit] See also
- Keratohyalin
[edit] External links
- L J McKinley-Grant, W W Idler, I A Bernstein, D A Parry, L Cannizzaro, C M Croce, K Huebner, S R Lessin, and P M Steinert. Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.Proc Natl Acad Sci U S A. 1989 July; 86(13): 4848–4852.
- Nigel Hawkes Gene discovered offers hope for eczema and asthma sufferers. The Australian. 20 March 2006.
- Palmer et al. Nature Genetics 2006 [Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis [1]]
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