Dhitavat J, Fairclough R J, Hovnanian A, Burge S M
INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse cedex 03, France.
Br J Dermatol. 2004 May;150(5):821-8. doi: 10.1111/j.1365-2133.2004.05904.x.
Darier's disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between keratinocytes is abnormal. ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. ATP2A2 encodes the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2) pump, while ATP2C1 encodes a secretory pathway Ca(2+)/Mn(2+)-ATPase (SPCA1) found in the Golgi apparatus. We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes.
达里埃病和黑利-黑利病是常染色体显性遗传的皮肤疾病,其中角质形成细胞之间的桥粒黏附异常。ATP2A2和ATP2C1分别被鉴定为达里埃病和黑利-黑利病的致病基因。ATP2A2编码肌浆内质网Ca(2 +)-ATP酶同工型2(SERCA2)泵,而ATP2C1编码在高尔基体中发现的分泌途径Ca(2 +)/Mn(2 +)-ATP酶(SPCA1)。我们综述了这些泵在人角质形成细胞中的功能的最新研究,并讨论了这些基因中的突变如何通过改变桥粒的形成或稳定性而导致这些疾病。