Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate
1982; Elsevier BV; Volume: 120; Issue: 3 Linguagem: Inglês
10.1016/0009-8981(82)90374-6
ISSN1873-3492
AutoresA. Poulos, J. Holding, W.F. Carey,
Tópico(s)Cellular transport and secretion
ResumoGM2 ganglioside labelled with tritium in the N-acetylneuraminic acid moiety was prepared and used to measure beta-hexosaminidase A activity in cultured humans skin fibroblasts extracts. The latter convert this substrate to the correspondingly labelled GM3 ganglioside which can easily be separated from the substrate by thin-layer chromatography. No cleavage of the N-acetylneuraminic acid group was observed under our conditions. Two methods are described for the determination of GM2-beta-hexosaminidase A activity in fibroblasts. The application of these methods to the diagnosis of Tay-Sachs disease is discussed.
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