Desmosomes: structure and function in normal and diseased epidermis.
Desmosomes are important epidermal adhesion complexes that are characterized by a cell-specific expression of transmembrane cadherins and plaque-associated molecules. Desmosomes have so far, been implicated in three main disease types: autoimmune diseases that involve desmosome components (such as pemphigus vulgaris and pemphigus foliaceus), congenital diseases that affect intracellular calcium channels (such as Hailey-Hailey disease and Darier disease) and congenital diseases that directly affect desmosomal structural components. The identification of the first congenital defect affecting a desmosome component was in the gene for plakophilin I which caused an autosomal recessive skin fragility-ectodermal dysplasia syndrome with skin, hair and nail defects. Subsequently, either a haploinsufficiency of desmoplakin or a defect in desmoglein 1 was found to underlie the autosomal dominant condition Striate Palmoplantar Keratoderma. In addition, plakoglobin has been shown to be defective in Naxos disease, which results in a cardiomyopathy and growth of abnormal hair. These findings pave the way for the discovery of further cell cohesion-related diseases and will help to greatly increase our understanding of the specific function of desmosome and other epithelial junction components.
McMillan
J R
JR
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Shimizu
H
H
D000818:Animals; D003896:Desmosomes / Q000502:physiology*; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D012871:Skin Diseases / Q000473:pathology* / Q000503:physiopathology*