Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
BACKGROUND
GM2 gangliosidoses, including Tay-Sachs disease, Sandhoff disease and the AB variant, comprise deficiencies of beta-hexosaminidase isozymes and GM2 ganglioside activator protein associated with accumulation of GM2 ganglioside (GM2) in lysosomes and neurosomatic clinical manifestations. A simple assay system for intracellular quantification of GM2 is required to evaluate the therapeutic effects on GM2-gangliosidoses.


METHODS
We newly established a cell-ELISA system involving anti-GM2 monoclonal antibodies for measuring GM2 storage in fibroblasts from Tay-Sachs and Sandhoff disease patients.


RESULTS
We succeeded in detecting the corrective effect of enzyme replacement on elimination of GM2 in the cells with this ELISA system.


CONCLUSIONS
This simple and sensitive system should be useful as additional diagnosis tool as well as therapeutic evaluation of GM2 gangliosidoses.
Tsuji
Daisuke
D
Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima, Tokushima 770-8505, Japan.
Higashine
Yukari
Y
Matsuoka
Kazuhiko
K
Sakuraba
Hitoshi
H
Itoh
Kohji
K
D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D002478:Cells, Cultured; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods*; D005347:Fibroblasts / Q000737:chemistry; D005678:G(M2) Ganglioside / Q000032:analysis* / Q000276:immunology; D020143:Gangliosidoses, GM2 / Q000628:therapy*; D054819:Hexosaminidase B; D006801:Humans; D012497:Sandhoff Disease / Q000628:therapy; D013661:Tay-Sachs Disease / Q000628:therapy; D054821:beta-Hexosaminidase beta Chain; D001619:beta-N-Acetylhexosaminidases / Q000627:therapeutic use
D000911:Antibodies, Monoclonal; D005678:G(M2) Ganglioside; C513386:HEXB protein, human; D054819:Hexosaminidase B; D054821:beta-Hexosaminidase beta Chain; D001619:beta-N-Acetylhexosaminidases