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Neuropediatrics 1988; 19(2): 59-61
DOI: 10.1055/s-2008-1052403
Original articles

© Georg Thieme Verlag KG Stuttgart · New York

Presence of β-Hexosaminidase A α-Chain mRNA in Two Different Variants of GM2-Gangliosidosis

Corinna  Budde-Steffen1 , M.  Steffen2 , D. A. Siegel3 , K.  Suzuki3
  • 1Children's Hospital, University Hospital Eppendorf, Martinistr. 52, D-2000 Hamburg 20, F.R.G., and Department of Neurology, Albert Einstein College of Medicine, Morris Park Avenue, Bronx, N.Y. 10461, USA
  • 2Department of Internal Medicine, University Hospital Eppendorf, Martinistr. 52, D-2000 Hamburg 20, F.R.G.
  • 3Department of Neurology, Albert Einstein College of Medicine, Morris Park Avenue, Bronx, N.Y. 10461, USA
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Publication History

Publication Date:
19 May 2008 (online)

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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 α-chain message when analyzed by Northern blotting with complementary DNA encoding the α-chain of human β-hexosaminidase A. In this report the pβH α-5 clone was used to investigate whether patients with two different variants of Tay-Sachs disease also lack the α-chain message. On the basis of RNA hybridization analyses, we could show that our patients which synthesize an altered α-chain, as judged by testing enzyme activity and substrate specificity, have the 2.1 kb mRNA which is also seen in healthy control patients.

Key words

Tay-Sachs disease - Tay-Sachs variants - β-hexosaminidase A α-chain mRNA - RNA transfer blot