862 Hedgehog signaling and ENPP1 role in epidermal proliferation and melanin synthesis

Cole disease (CD) is a rare genodermatosis featuring punctate palmoplantar keratosis and patchy hypopigmentation. This disorder results from pathogenic variants in ENPP1 which encodes ectonucleotide pyrophosphatase/ phosphodiesterase 1a. ENPP1 is responsible for the biosynthesis of an inhibitor of ectopic calcification. CD-causing variants affect a specific domain of the protein which may regulate response to insulin. We have previously shown that ENPP1 is expressed in keratinocytes. Downregulation of ENPP1 in organotypic skin cultures and MNT1 cells was associated with hyperproliferation and decreased melanin synthesis, respectively.

Source: Journal of Investigative Dermatology - April 17, 2023 Category: Dermatology Authors: M. Pavlovsky, A. Peled, O. Sarig, L. Samuelov, E. Sprecher, A. Taieb, J. Rambert, M. Cario Source Type: research