To developtherapeutic and prophylactic procedures for citrin deficiency
| Project/Area Number |
24591516
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kumamoto University |
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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)
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| Co-Investigator(Kenkyū-buntansha) |
USHIKAI Miharu 鹿児島大学, 医歯学総合研究科, 助教 (70232816)
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| 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)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| 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 / ピルビン酸ナトリウム / アミノ酸 / グリセロール3－リン酸 / グリセロール |
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| 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.
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Report
(4 results)
Research Products
(37 results)
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[Journal Article] Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.2014
Author(s)
Zhang ZH, Yang ZG, Chen FP, Kikuchi A, Liu ZH, Kuang LZ, Li WM, Song YZ, Kure S, Saheki T.
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Journal Title
Tohoku J Exp Med.
Volume: 233
Pages: 275-281
Related Report
Peer Reviewed
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[Journal Article] Cytosolic reducing power preserves glutamate in retina.2013
Author(s)
Du J, Cleghorn W, Contreras L, Linton JD, Chan GC, Chertov AO, Saheki T, Govindaraju V, Sadilek M, Satrustegui J, Hurley JB.
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Journal Title
Proc Natl Acad Sci U S A
Volume: 110
Pages: 18501-18506
DOI
Related Report
Peer Reviewed
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[Journal Article] SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.2013
Author(s)
Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T.
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Journal Title
DOI
Related Report
Peer Reviewed
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[Journal Article] A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine2013
Author(s)
Yazaki M, Kinoshita M, Ogawa S, Fujimi S, Matsushima A, Hineno A, Tazawa K, Fukushima K, Kimura R, Yanagida M, Matsunaga H, Saheki T, Ikeda S.
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Journal Title
Clin Neurol Neurosurg
Volume: 115
Pages: 1542-1545
DOI
Related Report
Peer Reviewed
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[Journal Article] Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.2012
Author(s)
Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Furuie S, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Yamamura K, Kobayashi K
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Journal Title
Mol Genet Metab.
Volume: 107(3)
Pages: 322-329
DOI
Related Report
Peer Reviewed
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