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

• Published in: PloS one Vol. 6; no. 12; p. e29074
• Main Authors: Kodama, Takashi, Togawa, Tadayasu, Tsukimura, Takahiro, Kawashima, Ikuo, Matsuoka, Kazuhiko, Kitakaze, Keisuke, Tsuji, Daisuke, Itoh, Kohji, Ishida, Yo-Ichi, Suzuki, Minoru, Suzuki, Toshihiro, Sakuraba, Hitoshi
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 20.12.2011; Public Library of Science (PLoS)
• Subjects: Adult; Animals; Apoptosis; Biochemistry; Biology; Biomarkers; Biomarkers - blood; Biomarkers - metabolism; Biotechnology; Blood plasma; Brain; Brain - metabolism; Brain research; Chromatography; Committees; Comparative analysis; Disease; Enzymes; G(M2) Activator Protein - deficiency; G(M2) Ganglioside - analogs & derivatives; G(M2) Ganglioside - blood; G(M2) Ganglioside - metabolism; Ganglioside GM2; Gangliosides; Genes; Hexosaminidases - blood; High performance liquid chromatography; Humans; Infant; Intracerebroventricular administration; Liquid chromatography; Medical research; Medicine; Mice; Mutation; Pharmaceutical sciences; Sandhoff Disease - blood; Sandhoff Disease - enzymology; Sandhoff Disease - metabolism; Tay-Sachs disease; Tay-Sachs Disease - blood; Tay-Sachs Disease - enzymology; Tay-Sachs Disease - metabolism; Japan
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0029074

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.