Filaggrin

Filaggrins are filament-associated proteins which bind to keratin fibers in epidermal cells.

Individuals with truncation mutations in the gene coding for filaggrin are stongly predisposed to a severe form of dry skin, (ichthyosis vulgaris), and/or 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, though novel mutations (3321delA and S2554X) have been found in Japanese populations that yield similar effects.