2019 Fiscal Year Final Research Report
The mechanism of severe developmental disorders caused by abnormalities in UFM1 system
Project/Area Number |
18K15061
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Research Category |
Grant-in-Aid for Early-Career Scientists
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Allocation Type | Multi-year Fund |
Review Section |
Basic Section 49010:Pathological biochemistry-related
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Research Institution | Juntendo University (2019) Niigata University (2018) |
Principal Investigator |
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Project Period (FY) |
2018-04-01 – 2020-03-31
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Keywords | UFM1 / UBA5 / ユビキチン様修飾システム / 発達障害 |
Outline of Final Research Achievements |
We have shown genetic mutations related to the UFM1 system lead to severe developmental disorders such as epilepsy and microcephaly when the UFM1 system activity is reduced. However, since the causative target molecule of UFM1 has not been identified, its molecular mechanism was unclear. NADH-Cytocrome b5 Reductase 3 (CYB5R3) was identified as a new target gene of UFM1 by using mass spectrometry.
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Free Research Field |
生化学
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Academic Significance and Societal Importance of the Research Achievements |
これまでにUFM1システム関連遺伝子に変異を持つ遺伝性重度発達障害家系を特定してきたが、UFM1の基質が不明であり、詳細が不明であった。本研究では新たなUFM1の基質を同定した。この基質自身の変異もUFM1システム関連遺伝子の変異による疾患と同様の症状を示す。UFM1システムの修飾低下が病気の発症となるため、この基質への修飾を促進することで治療法の開発につながりうる。
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