Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
oleh: Takashi Kodama, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Kazuhiko Matsuoka, Keisuke Kitakaze, Daisuke Tsuji, Kohji Itoh, Yo-Ichi Ishida, Minoru Suzuki, Toshihiro Suzuki, Hitoshi Sakuraba
| Format: | Article |
|---|---|
| Diterbitkan: | Public Library of Science (PLoS) 2011-01-01 |
Deskripsi
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.