Search

Gangliosides and neutral glycolipids of adrenal glands of mouse, rat, guinea pig, rabbit, cat, pig, cow, monkey, and chicken were analyzed by thin layer chromatography (TLC). The major gangliosides common to all species had lactosylceramide in their core structure. GM3 containing N-acetylneuraminic acid (NeuAc) was the major ganglioside in rat, guinea pig, rabbit, and cat, whereas GM3 containing N-glycolylneuraminic acid (NeuGc) was the major one in mouse, cow, and monkey. GD3 was also detected in all species except mouse and GD3(NeuAc)2 was the major in pig adrenal gland. GM4(NeuAc) was detected in the adrenal glands of guinea pig and chicken but not in those of the other species. In the neutral glycolipid fractions, galactosylceramide, glucosylceramide, lactosylceramide, globotriaosylceramide and globotetraosylceramide were detected and the proportions of these glycolipids varied among the species. Guinea pig and chicken adrenal glands contained large amounts of galactosylceramide, this being consistent with the presence of GM4 in these two species. Globopentaosylceramide was detected in mouse, guinea pig, cat, and chicken by the TLC-immunostaining procedure.

Glycolipids were isolated from the adrenal glands of seven strains of guinea pig by DEAE-Sephadex and Iatrobeads column chromatographies. The average lipid-bound sialic acid content of the adrenal glands was estimated to be 96.0 +/- 30.4 nmol/g fresh tissue. The ganglioside fraction contained two major gangliosides which accounted for 82% of the total lipid-bound sialic acid. They were identified as N-acetylneuraminylgalactosylceramide (GM4) and N-acetylneuraminyllactosylceramide (GM3). The neutral glycolipid fraction contained one major and three minor glycolipids. The major glycolipid was identified as galactosylceramide, which accounted for 81% of the total glycolipid. The other three glycolipids were identified as Forssman glycolipid (7%), lactosylceramide (5%), and gangliotriaosylceramide (7%). In all strains examined, the glycolipid patterns were similar.

Objectives – The GM2 gangliosidoses are a group of genetic disorders caused by the accumulation of ganglioside GM2 in neuronal cells. We examined the α - and β -subunits of β -hexosaminidases by a non-radioisotopes detecting system to evaluate whether it was a useful method for understanding of the pathophysiologies of GM2 gangliosidoses. Materials and methods – We investigated the α - and β -subunits of β -hexosaminidases in cultured fibroblasts from cases of various forms of GM2 gangliosidosis by means of Western blotting and a chemiluminescence detection system. Results – In a patient with infantile Tay-Sachs disease [HEXA genotype, Int5-SA(g-1 →t )/Int5-SA(g-1 →t )], the mature α -subunit was undetectable. In a patient with infantile Sandhoff disease (HEXB genotype, C534Y/C534Y), the mature β -subunit was deficient. However, a small amount of the mature β -subunit was detected in a patient with adult Sandhoff disease (HEXB genotype, R505Q(+I207V)/R505Q(+I207V)), which may have resulted in the residual enzyme activity and mild clinical course. Normal amounts of α - and β -subunits were detected in a patient with GM2 activator deficiency. Conclusion – This method is easy and sensitive for detecting target proteins, and is useful for clarification of the pathophysiologies of GM2 gangliosidoses. [ABSTRACT FROM AUTHOR]