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Lysosomal α-galactosidase in endothelial cell cultures established from a fabry hemizygous and normal umbilical veins

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Summary

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 α-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 umblical 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 quantive investigations of α-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 α-galactosidase A. It is concluded that endothelial cell lines are an important alternative to fibroblasts for in vitro studies of the lysosomal storage diseases.

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Authors and Affiliations

  1. Institute of Medical Genetics, The Panum Institute, Blegdamsvej 3C, DK-2200, Copenhagen N, Denmark

    Lis Hasholt & S. A. Sørensen

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  1. Lis Hasholt
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  2. S. A. Sørensen
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Hasholt, L., Sørensen, S.A. Lysosomal α-galactosidase in endothelial cell cultures established from a fabry hemizygous and normal umbilical veins. Hum Genet 72, 72–76 (1986). https://doi.org/10.1007/BF00278821

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  • DOI: https://doi.org/10.1007/BF00278821

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