Alterations in Skin Barrier Proteins Produce Immunological Alterations in Atopic Dermatitis

Individuals at risk for atopic dermatitis (AD) have recently been shown to have a loss-of-function mutation in the gene encoding the profilaggrin/filaggrin protein (FLG). Exactly how a defect in a skin barrier protein results in the immunological alterations of this disease has been uncertain. Flaky tail mice, which have a defect in filaggrin expression, share strikingly similar features with AD patients. Researchers carefully examined these animals for genetic defects to determine whether the mutation produced immunological abnormalities comparable to those in AD.

In the same genetic region where many human profilaggrin mutations reside, the researchers found a single base-pair deletion that yielded a frame-shift mutation, causing a prematu…