Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis

One of the genetic predisposing factors for atopic dermatitis (AD) is abnormal barrier function in the stratum corneum. Mutations in the filaggrin gene (FLG) have become apparent as a cause of this abnormal barrier function [1]. In addition, functional lipids in the epidermis, especially ω-O-esterified ultra-long-chain acylceramide (EOS), are important for skin barrier function [2]. The corneocyte lipid envelope (CLE) is also an essential structure for proper stratum corneum barrier function [2].
Source: Journal of Dermatological Science - Category: Dermatology Authors: Tags: Letter to the Editor Source Type: research