Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.
Juvenile Sandhoff, Sandhoff, and Tay-Sachs fibroblasts were mixed in paired combinations and treated with polyethylene glycol (PEG) to promote cell fusion. The hexosaminidase (hex) isozymes of PEG-treated mixed-cell cultures were determined and compared with those of untreated control cultures. Fusions involving juvenile Sandhoff and Sandhoff fibroblasts did not show an increase in either total hexosaminidase or heat-stable hex B. Fusions of juvenile Sandhoff (or Sandhoff) and Tay-Sachs fibroblasts showed an increase of heat-labile hex A. Thus, juvenile Sandhoff cells show complementation with Tay-Sachs cells but not Sandhoff cells. Consequently, the genetic defect in juvenile Sandhoff disease probably represents an allelic mutation of the gene that is defective in Sandhoff disease.
D002459:Cell Fusion; D005347:Fibroblasts / Q000201:enzymology; D005733:Gangliosidoses / Q000201:enzymology*; D006596:Hexosaminidases / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008064:Lipidoses / Q000201:enzymology; D009154:Mutation; D011092:Polyethylene Glycols
D007527:Isoenzymes; D011092:Polyethylene Glycols; D006596:Hexosaminidases