To developtherapeutic and prophylactic procedures for citrin deficiency

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591516
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kumamoto University
• Principal Investigator: SAHEKI Takeyori 熊本大学, 生命資源研究・支援センター, 特任教授 (10056070)
• Co-Investigator(Kenkyū-buntansha): USHIKAI Miharu 鹿児島大学, 医歯学総合研究科, 助教 (70232816)
• Co-Investigator(Renkei-kenkyūsha): YAMAMURA Ken-ichi 熊本大学, 生命資源研究・支援センター, 教授 (90115197) ; OSHIMURA Mitsuo 鳥取大学, 大学院医学系研究科, 教授 (20111619)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: シトリン欠損症 / マウスモデル / 糖質毒性 / アスパラギン酸グルタミン酸ミトコンドリア膜輸送体

Outline of Final Research Achievements

By using a citrin deficiency model mouse, we have got following results in the field of pathophysiology and treatment. (1) Urine glycerol level was higher in the model mouse than in the control mice and sucrose administration increased plasma glycerol in the model mouse, suggesting that these parameters are possible diagnostics. (2) Aversion to the high concentration of sucrose, ethanol and glycerol, the precipitating factors of adult-onset type II citrullinemia (CTLN2), was observed in the model mouse, and the forced oral administration of such solutions coincidentally accompanied with both a marked increase in hepatic glycerol 3-phosphate and a decrease in ATP. These results suggest that substances which suppress the phenomena stated above (an increase in glycerol 3-phosphate and a decrease in ATP) are possible therapeutics for citrin deficiency.

Free Research Field

医歯薬学