GM1 gangliosidosis (GM1) is an autosomal recessive genetic disorder, caused by an inactivating mutation of the lysosomal enzyme -galactosidase (GLB1), which is required for the degradation of GM1
ganglioside and keratan sulfate.
A previous study of
ganglioside (GD3) showed the vaccine caused a measurable immune response and prolonged survival in dogs with melanoma.
There was a reduction of approximately 25% in GM2
ganglioside from baseline in the cerebral spinal fluid, or CSF.
In the absence of functional enzyme, the fatty compounds
ganglioside globotriaosylceramides (Gb3) accumulate and can cause serious harm to the skin, kidneys, heart and the nervous system.
Glycolipid (cerebroside and
ganglioside), particularly cerebroside, has been proved to exhibit various physiological activities, including antitumor/cytotoxic (Natori et al., 1994; Jin et al., 1994; Li et al., 1995; Chen et al., 2009), antifungal (Jin et al., 1994), immunomodulatory, cyclooxygenase inhibitory, and antifouling activities (Mansoor et al., 2007).
The serum sampled suggested existence of the IgM and IgG antibody about
ganglioside antibody GM1 and nothing on Ri, Yo, and Hu from serum and CSF.
Acute ophthalmoplegia can be seen in both BBE and MFS and it is associated with the presence of
ganglioside GQ1b and called Anti GQ1b Antibody syndrome (3,4).
Similar spectra were seen in GM1 gangliosidosis, which is a lysosomal storage disease with b-galactosidase deficiency resulting in accumulation of GM1
ganglioside, oligosaccharides and keratan sulphate in the central nervous system, skeleton and vertebra.
AMAN is an autoimmune variant where
ganglioside antigens in the axon membrane itself are targeted by macrophages resulting in a Wallerian-like degeneration of the axon.
To evaluate the effects of
ganglioside GM1 treatment (Santa Cruz Biotechnology) on differentiation, hTSCs were cultured for 17 days in an osteogenic medium or 21 days in adipogenic medium supplemented with 1, 10, 50, and 100 [micro]M GM1.
Usually, the clinical suspicion of the GM1-gangliosidosis is based on the existence of signs indicating the massive storage of the GM1
ganglioside in the organs.