Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 131C, Issue 1, Pages 20-31Publisher
WILEY
DOI: 10.1002/ajmg.c.30031
Keywords
Darier disease; Hailey-Hailey disease; ATP2A2; SERCA2; ATP2C1; hSPCA1; calcium pump; encloplamic reticulum; Golgi apparatus; desmosome
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The causes of Darier disease (DID) and Hailey-Hailey disease (HHD) have eluded clinicians and scientists for more than 60 years. DID is characterized by loss of adhesion between suprabasal epidermal cells associated with abnormal keratinization, while loss of epidermal cell-to-cell adhesion is predominant in HHD. The genes for both conditions have recently been identified using candidate positional cloning approaches. The gene for DD (ATP2A2) encodes a calcium transport ATPase of the sarco (endo)plasmic reticulum (SERCA2) Verboomen et al. [1992: Biochem J 286(Pt 2):591-595], while the gene for HHD (ATP2C1) codes for a secretory pathway for calcium and manganese transport ATPase of the Golgi apparatus (SPCA1) Hu et al. [2000: Nat Genet 24:61-65]. These results have provided completely new insights into the role of calcium and/or manganese in maintaining skin integrity. Although the precise disease mechanisms remain to be understood, these discoveries open a new field in research for the understanding and the treatment of these distressing disorders. (C) 2004 Wiley-Liss, Inc.
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