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

Abstract

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.

• Authors: 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
• Journal: PloS one (PLoS One) Vol. 6 Issue 12 Pg. e29074 ( 2011) ISSN: 1932-6203 [Electronic] United States
• PMID: 22205997 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Biomarkers
• G(M2) Activator Protein
• lysoganglioside G(M2)
• G(M2) Ganglioside
• Hexosaminidases

Topics

• Adult
• Animals
• Biomarkers (blood, metabolism)
• Brain (metabolism)
• G(M2) Activator Protein (deficiency)
• G(M2) Ganglioside (analogs & derivatives, blood, metabolism)
• Hexosaminidases (blood)
• Humans
• Infant
• Mice
• Sandhoff Disease (blood, enzymology, metabolism)
• Tay-Sachs Disease (blood, enzymology, metabolism)