Development of diagnostic screening method and treatment for asparagine synthetase deficiency

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K19637
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: Kubota Kazuo 岐阜大学, 医学部附属病院, 助教 (10526940)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: アスパラギン合成酵素欠損症

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.

Free Research Field

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