Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel

J Neurochem. 1987 Mar;48(3):860-4. doi: 10.1111/j.1471-4159.1987.tb05596.x.

Abstract

The biochemical basis of a case of GM2 gangliosidosis in a Japanese Spaniel was studied. This dog had a massive accumulation of GM2 ganglioside in the brain. The beta-hexosaminidase activity in this affected dog brain was approximately 12 times higher than that of normal brain. However, the activity toward p-nitrophenyl-6-sulfo-2-acetamido-2-deoxyglucopyranoside was only four times higher in the affected brain than in normal brain. The GM2 activator preparation obtained from the normal dog brain could stimulate the hydrolysis of GM2 ganglioside by beta-hexosaminidase isolated from the affected dog. However, the corresponding activator fraction from the affected dog could not stimulate such a reaction. It was concluded that the biochemical basis of the GM2 gangliosidosis in this Japanese Spaniel was due to the attenuation in the stimulatory activity of GM2 activator. This case represents the first animal form similar to the activator deficiency (or defect) of Type AB GM2 gangliosidosis in humans.

Publication types

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

MeSH terms

  • Animals
  • Brain / metabolism*
  • Dog Diseases*
  • Dogs
  • G(M2) Ganglioside / metabolism*
  • Gangliosides / metabolism*
  • Gangliosidoses / metabolism
  • Gangliosidoses / veterinary*
  • Humans
  • Hydrolysis
  • Isoenzymes / metabolism
  • beta-N-Acetylhexosaminidases / metabolism

Substances

  • Gangliosides
  • Isoenzymes
  • G(M2) Ganglioside
  • beta-N-Acetylhexosaminidases