| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
GM2 gangliosidosis (ex. Sandhoff disease (SD)) is caused by genetic mutations in HexA enzyme coding genes. HexA disruption results in lysosomal storage of substrates such as GM2 gangliosides. We performed microarray analysis for SD model mice brain and determined RNA expression profile change. We focused on the up-regulation of A lectin that activates complement pathway. The lectin is localized in Purkinje cells and up-regulated in microglia that belong to F4/80 positive macrophage linage. The lectin mRNA expression was elaborated in brain and liver of SD mice and not in spleen, kidney nor lung. This pattern was correlated with F4/80 mRNA, but not with CD68, another macrophage marker that also expressed in F4/80 negative macrophage linage. HexA enzyme replacement for SD microglia cells lowered the lectin mRNA expression. The lectin that expression correlates with HexA expression is a potent biomarker for GM2 gangliosidosis.
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