Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intracerebroventricular administration of the modified Hex B. The lyso-GM2 levels in plasma of patients with Tay-Sachs disease and Sandhoff disease were increased, and the increase in lyso-GM2 was associated with a decrease in Hex A activity. Lyso-GM2 is expected to be a potential biomarker of Tay-Sachs disease and Sandhoff disease.
Department of Analytical Biochemistry, Meiji Pharmaceutical University, Tokyo, Japan.
Takashi
T
Kodama
Tadayasu
T
Togawa
Takahiro
T
Tsukimura
Ikuo
I
Kawashima
Kazuhiko
K
Matsuoka
Keisuke
K
Kitakaze
Daisuke
D
Tsuji
Kohji
K
Itoh
Yo-Ichi
Y
Ishida
Minoru
M
Suzuki
Toshihiro
T
Suzuki
Hitoshi
H
Sakuraba
D000328:Adult; D000818:Animals; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D049289:G(M2) Activator Protein / Q000172:deficiency; D005678:G(M2) Ganglioside / Q000031:analogs & derivatives* / Q000097:blood / Q000378:metabolism; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D051379:Mice; D012497:Sandhoff Disease / Q000097:blood / Q000201:enzymology / Q000378:metabolism*; D013661:Tay-Sachs Disease / Q000097:blood / Q000201:enzymology / Q000378:metabolism*
D015415:Biomarkers; D049289:G(M2) Activator Protein; C048941:lysoganglioside G(M2); D005678:G(M2) Ganglioside; D006596:Hexosaminidases