[Identification of GM2-gangliosidosis using an in vitro loading test].
A test system was developed for identification of conventional and atypical forms of GM2-gangliosidoses. The test system was based on a loading test using a culture of the patients skin fibroblasts. Gangliosides, isolated from small samples (several mg) of various tissues, were identified by means of thin-layer chromatography on silica gel plates. In the loading test both unlabelled and 3H-total gangliosides from bovine and rat brain were used. Skin fibroblasts from patients with Tay-Sachs disease, with Sandhoff disease and with unidentified form of leukodystrophy were cultivated. The fibroblasts were found to metabolize the gangliosides administered into the cultivation medium. The cells from patients with GM2-gangliosidoses accumulated GM2 during incubation within 8 days.
D000818:Animals; D001923:Brain Chemistry; D002478:Cells, Cultured; D002855:Chromatography, Thin Layer; D005347:Fibroblasts / Q000032:analysis; D005678:G(M2) Ganglioside / Q000032:analysis*; D005732:Gangliosides / Q000032:analysis*; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D008099:Liver / Q000032:analysis
D005732:Gangliosides; D005678:G(M2) Ganglioside
Identifikatsiia GM2-gangliozidozov s pomoshch'iu nagruzochnogo testa in vitro.