Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis

Neuropediatrics. 1988 May;19(2):59-61. doi: 10.1055/s-2008-1052403.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Line
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • G(M2) Ganglioside / metabolism
  • Gangliosidoses / genetics*
  • Gangliosidoses / metabolism
  • Gene Expression Regulation*
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism
  • Tay-Sachs Disease / genetics*
  • Tay-Sachs Disease / metabolism
  • beta-N-Acetylhexosaminidases / genetics*
  • beta-N-Acetylhexosaminidases / metabolism

Substances

  • RNA, Messenger
  • G(M2) Ganglioside
  • beta-N-Acetylhexosaminidases