A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.

A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.
Br J Dermatol. 2019 Aug 17;:
Authors: Takeichi T, Matsumoto T, Nomura T, Takeda M, Niwa H, Kono M, Shimizu H, Ogi T, Akiyama M
Abstract
NCSTN encodes nicastrin, one of the three subunits of γ-secretase, a transmembrane endoprotease complex that catalyzes the cleavage of many transmembrane proteins including Notch receptors.1 In 2010, mutations in genes encoding γ-secretase subunits (NCSTN, PSENEN and PSEN1) were reported in cases of hidradenitis suppurativa (HS).2 It has been demonstrated that tumor necrosis factor-α and interleukin (IL) -10 levels are elevated in patients with HS with NCSTN mutations,1 although other reports found no elevation3 or found decreases.
PMID: 31421058 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - August 16, 2019 Category: Dermatology Authors: Takeichi T, Matsumoto T, Nomura T, Takeda M, Niwa H, Kono M, Shimizu H, Ogi T, Akiyama M Tags: Br J Dermatol Source Type: research