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  • Title: Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
    Author: Budde-Steffen C, Steffen M, Siegel DA, Suzuki K.
    Journal: Neuropediatrics; 1988 May; 19(2):59-61. PubMed ID: 2967444.
    Abstract:
    Tay-Sachs disease displays a variety of forms on the clinical and biochemical level. On the molecular level it has been shown, that poly (A)+ RNA preparations from fibroblasts of patients with classical Tay-Sachs disease lack detectable alpha-chain message when analyzed by Northern blotting with complementary DNA encoding the alpha-chain of human beta-hexosaminidase A. In this report the p beta H alpha-5 clone was used to investigate whether patients with two different variants of Tay-Sachs disease also lack the alpha-chain message. On the basis of RNA hybridization analyses, we could show that our patients which synthesize an altered alpha-chain, as judged by testing enzyme activity and substrate specificity, have the 2.1 kb mRNA which is also seen in healthy control patients.
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