An inducible mouse model of late onset Tay-Sachs disease

Neurobiol Dis. 2002 Aug;10(3):201-10. doi: 10.1006/nbdi.2002.0511.

Abstract

Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P < 0.0001). However, 100% of female mice with repeat breeding histories developed late onset disease at an earlier age (n = 21, P < 0.0001) and displayed all clinical features. Repeat breeding of a large cohort of female Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Animals
  • Brain / enzymology
  • Brain / pathology
  • Disease Models, Animal*
  • Female
  • G(M2) Ganglioside / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Phenotype
  • Pregnancy
  • Tay-Sachs Disease / enzymology
  • Tay-Sachs Disease / genetics*
  • Tay-Sachs Disease / physiopathology

Substances

  • G(M2) Ganglioside