PLoS ONE (Jan 2011)

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

  • 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

DOI
https://doi.org/10.1371/journal.pone.0029074
Journal volume & issue
Vol. 6, no. 12
p. e29074

Abstract

Read online

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.