Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique.
Hexosaminidases, lysosomal enzymes whose deficiency is responsible for several genetic disorders, exist as two major forms: form A, containing two types of subunits alpha and beta; and form B, containing only beta subunits. We have used a technique involving successively electrophoresis of denatured proteins, transfer (blotting) onto nitrocellulose, and labelling by appropriate antibodies raised against the dissociated forms of hexosaminidases A and B. This technique allows the detection of alpha and beta subunits in crude extracts of normal tissues. The presence of beta chains was demonstrated in the liver of a fetus affected with Sandhoff's disease, deficient in functional hexosaminidases A and B.
D004586:Electrophoresis; D005260:Female; D006596:Hexosaminidases / Q000032:analysis* / Q000276:immunology; D006801:Humans; D007106:Immune Sera; D008297:Male; D012497:Sandhoff Disease / Q000201:enzymology*
D007106:Immune Sera; D006596:Hexosaminidases