A role for aquaporin-5 mutations in regulation of the actin cytoskeleton in non-epidermolytic palmoplantar keratoderma

Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK [MIM 600231]) is characterized by thickening of the epidermis in palms and soles with a barrier defect. Missense variants within the AQP5 gene, encoding the water channel protein Aquaporin-5 (AQP5), are the underlying genetic cause of this autosomal dominant genodermatosis. AQP5 is highly expressed in sweat glands and localises to the plasma membrane of suprabasal keratinocytes in the palmoplantar epidermis (Blaydon et al, 2013). Here, diffuse NEPPK biopsies and patient-derived keratinocyte cell lines, obtained with written, informed consent and approved by the research ethics committees of the National Health Service (08/H1102/73) and Ume å University, were used to investigate the biological role of epidermally-expressed AQP5.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research