661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis

Mutations in the ABCA12 gene cause Harlequin Ichthyosis (HI), the most severe ARCI, with a defective skin barrier. The aim of this study was to identify essential pathways involved in HI pathomechanisms, responsible for aberrant epidermal differentiation. We performed RNA-seq on calcium-induced primary keratinocytes with siRNA knockdown of ABCA12 and identified 118 genes significantly down-regulated and 36 genes significantly up-regulated. Functional annotation clustering analysis showed changes in epidermal differentiation, fatty acid metabolism, cytokine and interferon signaling.

Source: Journal of Investigative Dermatology - April 19, 2018 Category: Dermatology Authors: F. Enjalbert, P. Dewan, M.P. Caley, B. Fell, M. Morse, D. Kelsell, A. Enright, E.A. O'Toole Tags: Epidermal Structure and Barrier Function Source Type: research