title: Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
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.
authors.affiliation: Children's Hospital, University Hospital Eppendorf, Hamburg, F.R.G.
authors.forename: C
authors.initials: C
authors.lastname: Budde-Steffen
authors.forename: M
authors.initials: M
authors.lastname: Steffen
authors.forename: D A
authors.initials: DA
authors.lastname: Siegel
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
mesh_terms: D002460:Cell Line; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005678:G(M2) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D013661:Tay-Sachs Disease / Q000235:genetics* / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D005678:G(M2) Ganglioside; D001619:beta-N-Acetylhexosaminidases