γ-secretase gene mutations in familial acne inversa

B Wang, W Yang, W Wen, J Sun, B Su, B Liu, D Ma… - Science, 2010 - science.org
B Wang, W Yang, W Wen, J Sun, B Su, B Liu, D Ma, D Lv, Y Wen, T Qu, M Chen, M Sun…
Science, 2010science.org
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent,
inflammatory disease of hair follicles that often runs in families. We studied six Chinese
families with features of AI as well as additional skin lesions on back, face, nape, and waist
and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the
genes encoding essential components of the γ-secretase multiprotein complex. Our results
identify the γ-secretase component genes as the culprits for a subset of familial AI, implicate …
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families. We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex. Our results identify the γ-secretase component genes as the culprits for a subset of familial AI, implicate the γ-secretase–Notch pathway in the molecular pathogenesis of AI, and demonstrate that familial AI can be an allelic disorder of early-onset familial Alzheimer’s disease.
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