γ分泌酶基因突变在反常性痤疮的研究进展  

γ-Secretase mutations in acne inversa

作　　者：周鹏军 王宝玺 林立航[3] 肖学敏[3] Zhou Pengjun;Wang Baoxi;Lin Lihang;Xiao Xuemin(Graduate School of Fujian Medical University,Fuzhou 350001,China;Department of Dermatology,Plastic Surgery Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100144,China;Department of Dermatology,Fujian Medical University Union Hospital,Fuzhou 350001,China)

机构地区：[1]福建医科大学研究生院,福州350001 [2]中国医学科学院北京协和医学院整形外科医院皮肤科,北京100144 [3]福建医科大学附属协和医院皮肤科,福州350001

出　　处：《中华皮肤科杂志》2019年第9期656-659,共4页Chinese Journal of Dermatology

基　　金：国家自然科学基金(81602785).

摘　　要：反常性痤疮是毛囊-皮脂腺-顶泌汗腺单元的慢性炎症性皮肤病,遗传和免疫因素是目前发病机制研究的热点。遗传因素主要与γ分泌酶突变有关:在γ分泌酶基因单倍体不足的遗传背景下,部分患者γ分泌酶-Notch轴表达异常,导致毛囊角化和炎症加剧。γ分泌酶基因突变并不一定引起反常性痤疮的发生,家族性反常性痤疮患者阿尔茨海默病的发病风险仍不清楚,基因型和表型的联系已取得一定的进展,但还需大样本研究的验证。Acne inversa is a chronic inflammatory skin disease of the folliculo-sebaceous-apocrine unit. Currently, genetic and immunological factors are hot topics in the study of its pathogenesis. Genetic factors are mainly related to γ-secretase mutations, and abnormal expression of the γ-secretase-Notch axis leads to increased keratinization of hair follicles and inflammation in some patients with haploinsufficiency of the γ-secretase gene. Mutations in the γ-secretase gene are not necessary for acne inversa, and the risk of Alzheimer′s disease in familial acne inversa patients still remains unclear. Some progress has been made in researches on the association of genotype with phenotype in acne inversa patients, but further studies with large sample size are needed for verification.

关 键 词：化脓性汗腺炎 Γ-分泌酶 突变 受体 Notch 发病机制 

分 类 号：R758.733[医药卫生—皮肤病学与性病学]