2. Academic Validation
  3. Gamma-secretase gene mutations in familial acne inversa

Gamma-secretase gene mutations in familial acne inversa

  • Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284.
Baoxi Wang 1,  Wei Yang,  Wen Wen,  Jing Sun,  Bin Su,  Bo Liu,  Donglai Ma,  Dan Lv,  Yaran Wen,  Tao Qu,  Min Chen,  Miao Sun,  Yan Shen,  Xue Zhang
Affiliations

Affiliation

  • 1 Peking Union Medical College Hospital, Chinese Academy of Medical Sciences-Peking Union Medical College (CAMS-PUMC), Beijing, China.
PMID: 20929727 DOI: 10.1126/science.1196284
Abstract

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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