title: beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
abstract: 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.
authors.affiliation: Department of Pathology, University Hospital, Lund, Sweden.
authors.forename: M E
authors.initials: ME
authors.lastname: Elsafi
authors.forename: M I
authors.initials: MI
authors.lastname: Elbashir
authors.forename: B
authors.initials: B
authors.lastname: Hultberg
authors.forename: A
authors.initials: A
authors.lastname: Isaksson
authors.forename: I
authors.initials: I
authors.lastname: Hägerstrand
authors.forename: U
authors.initials: U
authors.lastname: Stenram
mesh_terms: 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*
chemical_list: D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases