A series of six full-term placentas and umbilical cords were examined using the in situ detection of globotriaosylceramide (Gb3Cer), GM1 ganglioside (GM1), GM3 ganglioside (GM3), cholesterol and caveolin 1. Immunohistochemical study showed uniform distinct staining of the apical membrane of villous capillary endothelial cells for Gb3Cer, GM1, GM3 and cholesterol. There was also a strong signal for caveolin 1. The immunophenotype suggests the presence of caveola-associated raft microdomains. The immunophenotype was almost completely shared with the extravillous intravascular trophoblast in the basal plate. It was absent in the endothelial cells of umbilical vessels and in the capillaries of somatic structures (heart, lung, skeletal muscle and skin) in neonates as well as in adults, including capillaries of the proliferative endometrium. Results of in situ analyses were confirmed by lipid chromatographic analysis of tissue homogenates and by tandem mass spectrometry. Lysosomal Gb3Cer turnover was followed in three placentas including umbilical cords from Fabry disease (α-galactosidase A deficiency). Lysosomal storage was restricted to vascular smooth muscle cells and to endothelial cells of umbilical vessels. Placental villous capillary endothelial cells displaying a strong non-lysosomal staining for Gb3Cer were free of lysosomal storage.

Institute of Inherited Metabolic Disorders 1st Faculty of Medicine and General University Hospital Charles University Prague Ke Karlovu 2 120 00 Praha 2 Czech Republic

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