The Role of the NOTCH-MKP-1 Signaling Pathway and Gamma-secretase in familial Hidradenitis Suppurativa
Hidradenitis Suppurativa is a chronic, debilitating skin disease of the hair follicles and apocrine glands resulting in painful nodules, inflammation, and scarring primarily in the axillary, anogenital, breast, and buttock regions. Under the Hurley’s classification system, there are three stages of the disease and while there are many possible treatments, most are insufficient and there is no cure. Somewhere between 30 and 40 percent of cases have proven to have a genetic component and the condition is inherited in an autosomal dominant pattern. These familial cases have proven to display mutations in three of the four genes that make up the g-secretase enzyme complex: NCSTN, PSENEN, and PSEN1. These mutations cause a decrease in the protease activity of g-secretase, thereby impairing the NOTCH-MKP-1 signaling pathway. This project synthesizes all of the most recent genetic findings in various cases of HS in order to make progress to defining the specific cause and determining the most effective treatments.
Lind, Holly, "The Role of the NOTCH-MKP-1 Signaling Pathway and Gamma-secretase in familial Hidradenitis Suppurativa" (2017). 2017 Undergraduate Research and Scholarship Conference.