Study of disease model fish with peroxisomal biogenesis disorder for identification of pathological agent and treatment.
| Project/Area Number |
16K09963
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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 | Gifu University |
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Principal Investigator |
Takashima Shigeo 岐阜大学, 研究推進・社会連携機構, 助教 (50537610)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | ペルオキシソーム / ペルオキシソーム形成異常症 / 極長鎖脂肪酸 / プラズマローゲン / フィタン酸 / PEX遺伝子 / ゼブラフィッシュ / ペルオキシソーム病 |
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| Outline of Final Research Achievements |
In this research, a disease model fish (pex2 mutant zebrafish) for human peroxisomal biogenesis disorder was established and analyzed. pex2 mutant fish was found to recapitulate human patients’ symptoms such as the neuromotor defect, liver steatosis, short life span. Accumulation of distinct fatty acid species such as very-long-chain fatty acids in each organ was revealed by means of mass spectrometry assay. In the model fish, the expression of many other genes, which were thought to be involved in the progress of the defects, were also affected.
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| Academic Significance and Societal Importance of the Research Achievements |
ヒトペルオキシソーム形成異常症は患者における病態発症機構がわかっておらず、治療法開発のためにもその解明が待たれている。本研究により、これまで明らかでなかった器官ごとに異なる異常な脂肪酸の蓄積が確認された。これらの異常脂肪酸はヒト患者において器官ごとの病態発症の引き金になっている可能性があり、今後その検証を行うことで発症の原因を明らかにできると考えられる。多岐にわたる遺伝子の働きにも影響が及んでいることも明らかになったことから本研究成果により病態の発症原因と進行過程の一端を明らかにできたと考える。
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Report
(4 results)
Research Products
(15 results)
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[Journal Article] Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.2017
Author(s)
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemurad, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe.
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Journal Title
J Neurological Sciences
Volume: 375
Pages: 424-429
DOI
Related Report
Peer Reviewed
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