2013 Fiscal Year Final Research Report
Development of a new biomarker of GM2 gangliosidosis
| Project/Area Number |
23659527
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Meiji Pharmaceutical University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2013
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| Keywords | GM2ガングリオシドーシス / テイ-サックス病 / ザンドホッフ病 / GM2ガングリオシド / リゾ-GM2ガングリオシド / バイオマーカー |
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| Research Abstract |
To develop a new biomarker of GM2 gangliosidosis, we focused attention on lyso-GM2 ganglioside (lyso-GM2). We measured the lyso-GM2 levels in the brain and plasma of Sandhoff mice by means of high performance liquid chromatography, and examined the effects of a modified hexosaminidase B (HexB) exhibiting hexosaminidase A (HexA)-like activity. Then, the lyso-GM2 concentrations in plasma from patients with Tay-Sachs disease and Sandhoff disease 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 intraventricular administration of the modified HexB. The plasma lyso-GM2 levels in the patients with Tay-Sachs disease and Sandhoff disease were increased, and their increase in lyso-GM2 was associated with a decrease in HexA activity. Considering the results, lyso-GM2 is thought to be a potential biomarker of GM2 gangliosidosis.
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[Journal Article] High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients2012
Author(s)
Doi K, Noiri E, Ishizu T, Negishi K, Suzuki Y, Hamasaki Y, Honda K, Fujita T, Tsukimura T, Togawa T, Saito S, Sakuraba H
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Journal Title
J Hum Genet
Volume: 57
Pages: 575-579
DOI
Peer Reviewed
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[Journal Article] Lyso-GM2 ganglioside : a possible biomarker of Tay-Sachs disease and Sandhoff disease2011
Author(s)
Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H
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Journal Title
PLoS One
Volume: 6
Pages: e29074
DOI
Peer Reviewed
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