γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

Andrew E. Pink, Michael A. Simpson, Nemesha Desai, Richard C. Trembath, Jonathan N. W. Barker*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

131 Citations (Scopus)

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 gamma-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight gamma-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. Journal of Investigative Dermatology (2013) 133, 601-607; doi:10.1038/jid.2012.372; published online 25 October 2012

Original languageEnglish
Pages (from-to)601-607
Number of pages7
JournalJournal of Investigative Dermatology
Volume133
Issue number3
DOIs
Publication statusPublished - Mar 2013

Keywords

  • ALZHEIMERS-DISEASE
  • ACNE INVERSA
  • TRANSMEMBRANE DOMAIN
  • MUTANT PRESENILIN-1
  • NCSTN MUTATIONS
  • APOCRINE GLANDS
  • NICASTRIN
  • NOTCH
  • GENE
  • COMPLEX

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