title: γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.
abstract: Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight γ-secretase (an enzyme that has been extensively investigated in familial Alzheimer's disease) to have an integral role in cutaneous biology and, more specifically, in HS. In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases.
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK.
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Pink
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust, London, UK.
authors.forename: Nemesha
authors.initials: N
authors.lastname: Desai
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK; Queen Mary University of London, Bart's and The London School of Medicine and Dentistry, London, UK.
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, King's College London, London, UK. Electronic address: jonathan.barker@kcl.ac.uk.
authors.forename: Jonathan N W
authors.initials: JNW
authors.lastname: Barker
mesh_terms: D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C469349:PSENEN protein, human; D053764:Presenilin-1; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases