| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
The aim of this study was to develop diagnostic screening method and treatment for asparagine synthetase deficiency. Expression experiment was performed using mutant expression vectors of four novel ASNS mutations we identified. In the stability analysis, there were no significant differences between mutants of ASNS protein and the wild type. We could not quantify of asparagine because of interrupting by endogenous proteins including cultured cells. There is markedly reduced proliferation of patient fibroblasts when cultured in growth medium without asparagine, compared to control fibroblasts. On the other hand, the fibroblasts were increased in medium including asparagine. The results suggest that asparagine supplementation may be effective in asparagine synthetase deficiency.
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