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 w...

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Veröffentlicht in:	PloS one 2011-12, Vol.6 (12), p.e29074-e29074
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0029074