Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids

Hum Genet. 1977 Dec 23;39(3):315-9. doi: 10.1007/BF00295426.

Abstract

To obtain information about the nature of the residual hexosaminidase activity in Sandhoff's disease, hybrid cell lines between fibroblasts from a patient with Sandhoff's disease and Chinese hamster cells were isolated. In these hybrid cell lines, a heteropolymeric isoenzyme was detected that is composed of human alpha- and Chinese hamster hexosaminidase subunits. Due to the electrophoretic and immunological behavior of the heteropolymeric molecules in interspecies hybrids with normal fibroblasts and with cells from a patient with Sandhoff's disease, we conclude that Sandhoff cells contain an alpha-subunit of hexosaminidase with normal characteristics.

MeSH terms

  • Animals
  • Cricetinae
  • Fibroblasts / enzymology
  • Gangliosidoses / enzymology*
  • Hexosaminidases / analysis*
  • Humans
  • Hybrid Cells / enzymology
  • Isoenzymes / analysis

Substances

  • Isoenzymes
  • Hexosaminidases