What is the role of gamma-secretase in the etiology of hidradenitis suppurativa (HS)?

Updated: Aug 30, 2019
  • Author: Marina Jovanovic, MD, PhD; Chief Editor: William D James, MD  more...
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Answer

Gamma-secretase is a transmembrane protease composed of four essential protein subunits: one catalytic presenilin (PSEN1) subunit and three cofactor subunits [presenilin enhancer 2 (PSENEN), nicastrin (NCSTN), and anterior pharynx defective 1 (APH1)]. Gamma-secretase appears integral to normal skin function, through effects on notch signaling, such as the biological role in the hair follicle. The pattern of mutations suggests that loss of function of components of the gamma-secretase complex underlies the disease: follicular keratinization, follicular atrophy, the formation of epidermal cysts, absence of sebaceous glands, and epidermal hyperplasia. Most frequently, gamma-secretase mutations corresponded to nicastrin (NCSTN) mutant proteins.


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