If you are experiencing problems downloading PDF or HTML fulltext, our helpdesk recommend clearing your browser cache and trying again. If you need help in clearing your cache, please click here . Still need help? Email help@ingentaconnect.com

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

$48.00 plus tax (Refund Policy)

Download / Buy Article:


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.

Keywords: GM2 activator deficiency; Sandhoff disease; Tay-Sachs disease

Document Type: Research Article

DOI: http://dx.doi.org/10.1034/j.1600-0404.2002.01097.x

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: June 1, 2002

Related content



Share Content

Access Key

Free Content
Free content
New Content
New content
Open Access Content
Open access content
Subscribed Content
Subscribed content
Free Trial Content
Free trial content
Cookie Policy
Cookie Policy
ingentaconnect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more