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  • Title: beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
    Author: Elsafi ME, Elbashir MI, Hultberg B, Isaksson A, Hägerstrand I, Stenram U.
    Journal: Scand J Clin Lab Invest; 1991 Dec; 51(8):711-4. PubMed ID: 1839650.
    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.
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