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Mutations in genes related to gamma-secretase function are associated with hidradenitis suppurativa — and with Alzheimer disease.

Hidradenitis suppurativa (HS), or acne inversa, is a chronic follicular inflammatory disorder with significant morbidity and management challenges. Though an autosomal dominant familial predisposition has been previously documented, no genetic basis for this condition has been identified until now.

Several genes related to the γ-secretase complex have been suggested as genetic predisposition loci for HS. This complex comprises four protein subunits important for cleavage of membrane proteins, including amyloid precursor protein and Notch. These investigators identified inactivating mutations in PSENEN, PSEN1, and NCSTN, genes that encode components of this complex, in affected individuals in 6 affected Han Chinese kindreds and not in 200 eth…

Reviewing Author

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

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Reviewing Author