Application Notes:
Gangliosides1 are acidic glycosphingolipids that form lipid rafts in the outer leaflet of the cell plasma membrane, especially
in neuronal cells in the central nervous system.2 They participate in cellular proliferation, differentiation, adhesion, signal
transduction, cell-to-cell interactions, tumorigenesis, and metastasis.3 GM2 regulates the function of ciliary neurotrophic
factor receptors. The accumulation of GM2 (due to a deficiency in beta-hexosaminidase) has characterized Tay-Sachs disease
(due to a mutation in the gene HEXA) and Sandhoff disease (due to a mutation in the gene HEXB). A mutation in the GM2A
gene results in GM2 activator deficiency that also leads to accumulation of GM2.4
References:
1. L. Svennerholm, et al. (eds.), Structure and Function of Gangliosides, New York, Plenum, 1980
2. T. Kolter, R. Proia, K. Sandhoff, J. Biol. Chem., Vol. 277, No. 29, pp. 25859-25862, 2002
3. S. Birkle, G. Zeng, L. Gao, R.K. Yu, and J. Aubry, Biochimie, Vol. 85 pp. 455–463, 2003
4. R. Gravel et al., The Metabolic and Molecular Bases of Inherited Disease (C. R. Scriver, W. S. Sly, B. Childs, A. L. Beaudet, D. Valle, K. W. Kinzler, and B. Vogelstein, eds) pp. 3827–3876, McGraw-Hill Inc., New York, 2001