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An inducible mouse model of late onset Tay-Sachs disease

Jeyakumar, Mylvaganam, Smith, David, Eliott-Smith, Elena, Cortina-Borja, Mario, Reinkensmeier, Gabriele, Butters, Terry D., Lemm, Thorsten, Sandhoff, Konrad, Perry, V. Hugh, Dwek, Raymond A. and Platt, Frances M. (2002) An inducible mouse model of late onset Tay-Sachs disease Neurobiology of Disease, 10, (3), pp. 201-210. (doi:10.1006/nbdi.2002.0511).

Record type: Article


Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase ? and ? 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 not, vert, similar65% 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.

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Published date: August 2002
Keywords: GM2 gangliosidosis, lysosomal storage disease, glycosphingolipid, hexosaminidase, neurodegeneration


Local EPrints ID: 56108
ISSN: 0969-9961
PURE UUID: 7e2d40d4-bf73-4d43-8e87-ab382eb9a899

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Date deposited: 07 Aug 2008
Last modified: 17 Jul 2017 14:31

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Author: Mylvaganam Jeyakumar
Author: David Smith
Author: Elena Eliott-Smith
Author: Mario Cortina-Borja
Author: Gabriele Reinkensmeier
Author: Terry D. Butters
Author: Thorsten Lemm
Author: Konrad Sandhoff
Author: V. Hugh Perry
Author: Raymond A. Dwek
Author: Frances M. Platt

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