Publication Date:
2010-10-12
Description:
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 gamma-secretase multiprotein complex. Our results identify the gamma-secretase component genes as the culprits for a subset of familial AI, implicate the gamma-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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wang, Baoxi -- Yang, Wei -- Wen, Wen -- Sun, Jing -- Su, Bin -- Liu, Bo -- Ma, Donglai -- Lv, Dan -- Wen, Yaran -- Qu, Tao -- Chen, Min -- Sun, Miao -- Shen, Yan -- Zhang, Xue -- New York, N.Y. -- Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Peking Union Medical College Hospital, Chinese Academy of Medical Sciences-Peking Union Medical College (CAMS-PUMC), Beijing, China.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20929727" target="_blank"〉PubMed〈/a〉
Keywords:
Adolescent
;
Adult
;
Aged
;
Aged, 80 and over
;
Alleles
;
Alzheimer Disease/genetics
;
Amyloid Precursor Protein Secretases/*genetics
;
Asian Continental Ancestry Group/genetics
;
Chromosomes, Human, Pair 19
;
DNA Mutational Analysis
;
Female
;
Hidradenitis Suppurativa/*enzymology/*genetics
;
Humans
;
Male
;
Membrane Glycoproteins/genetics
;
Membrane Proteins/genetics
;
Middle Aged
;
*Mutation
;
Presenilin-1/genetics
;
Reverse Transcriptase Polymerase Chain Reaction
;
Young Adult
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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