title: Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins.
abstract: An endothelial cell line has been established from the umbilical vein obtained after abortion of a male fetus suffering from Fabry disease. This X-linked inborn error of glycosphingolipid catabolism results from deficiency of the lysosomal hydrolase alpha-galactosidase A. The clinical manifestations of the disease are mainly caused by glycosphingolipid depositions in the endothelium of all vessels. The hemizygous cell line and eight endothelial cell lines originating from the umbilical cords of normal newborns were grown for more than 10 passages. They had a short generation time that allowed us to get sufficient cells for qualitative and quantitative investigations of alpha-galactosidase. The enzyme in normal endothelial cells had a similar thermostability and isoelectric focusing pattern as that in fibroblasts, but the activity was essentially higher in endothelial cells. The hemizygous endothelial cells were deficient in alpha-galactosidase A. It is concluded that endothelial cell lines are an important alternative to fibroblasts for in vitro studies of the lysosomal storage diseases.
mesh_terms: D002460:Cell Line; D004727:Endothelium / Q000201:enzymology; D000795:Fabry Disease / Q000201:enzymology*; D005260:Female; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D011247:Pregnancy; D014471:Umbilical Veins; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase