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Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis

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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−1t)/Int5-SA(g−1t)], 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.
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Keywords: GM2 activator deficiency; Sandhoff disease; Tay-Sachs disease

Document Type: Research Article

Affiliations: 1: The Second Department of Internal Medicine, Nippon Medical School, Bunkyo-ku, Tokyo, Japan, 2: Department of Biological Science and Technology, Faculty of Engineering, University of Tokushima, Tokushima, Japan, 3: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, 4: Department of Pediatrics, Osaka City University School of Medicine, Osaka, Japan, 5: Aiiku Clinic of Pediatrics, Nagasaki, Japan, 6: Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan, 7: The Second Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan

Publication date: 2002-06-01

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