beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Fibroblasts from a genetically normal individual and mutant fibroblasts from patients with Tay-Sachs and Sandhoff's diseases were grown in vitro. The lysosomal enzyme beta-hexosaminidase (Hex) was determined biochemically and localized with monoclonal antibodies recognizing Hex A, and Hex A and Hex B, respectively. The biochemical results showed similar amounts of Hex A and Hex B in the normal fibroblasts, whereas only Hex B activity was detectable in the fibroblasts from the patient with Tay-Sachs disease. The fibroblasts from the patient with Sandhoff's disease showed small amounts of Hex A- and no Hex B activity. Immunohistochemically, Hex was detectable with both antibodies in the normal fibroblasts and in those from the patient with Tay-Sachs disease. The fibroblasts from the patient with Sandhoff's disease were reactive only with Hex A-specific antibody.
Elsafi
M E
ME
Department of Pathology, University Hospital, Lund, Sweden.
Elbashir
M I
MI
Hultberg
B
B
Isaksson
A
A
Hägerstrand
I
I
Stenram
U
U
D002460:Cell Line; D005347:Fibroblasts / Q000201:enzymology*; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006801:Humans; D007124:Immunoenzyme Techniques; D012497:Sandhoff Disease / Q000201:enzymology; D013661:Tay-Sachs Disease / Q000201:enzymology; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism*
D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases