Study on ketone body metabolism and its defects: mainly gene expression mechanism of SCOT gene
| Project/Area Number |
24591505
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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 |
FUKAO Toshiyuki 岐阜大学, 医学(系)研究科(研究院), 教授 (70260578)
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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: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | ケトン体代謝 / 先天代謝異常症 / スプライシング / 遺伝子異常 / 遺伝子発現調節 / OXCT1 / ChiPアッセイ |
|---|
| Outline of Final Research Achievements |
I mainly analyzed the mechanism of liver-specific suppression of SCOT gene.
1)Liver specific suppression activity was not observed in human and mouse 3’non-coding region sequences when examined by a luciferase assay. 2)Using ChiP assay with RNA polymerase 2 antibody, transcriptional activity of SCOT hene regions were compared with that of GAPDH in mouse heart, kidney and liver tissues. SCOT transcription in the liver was much low comparing to that in the kidney and heart. These data suggest that SCOT gene expression is suppressed mainly at the transcriptional level in liver. I also confirmed that a missense mutation c.949G>A(D317N) caused exon 10 skipping in the mini-gene splicing experiment, indicating that this mutation functions as a splicing mutation rather than amissense mutation.
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Report
(4 results)
Research Products
(36 results)
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[Journal Article] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.2014
Author(s)
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, ShigematsuY, Hasegawa Y.
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Journal Title
J Hum Genet
Volume: 59
Issue: 11
Pages: 609-614
DOI
NAID
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Peer Reviewed
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[Presentation] Three patients with HSD10 disease in Japan.2015
Author(s)
Fukao T, Sasai H, Aoyama Y,Akiba K, Goto M, Hasegawa Y, Kobayashi M, Ida H, Akagawa S, Hori T,Hasegawa Y, Yamaguchi S, Shigematsu Y.
Organizer
4th Asian Congress for Inherited Metabolic Disease 2015
Place of Presentation
Taipei(Taiwan)
Year and Date
2015-03-20 – 2015-03-21
Related Report
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[Presentation] The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) without intellectual disability.2014
Author(s)
Akiba K, Fukao T, Goto M, kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake T, Hasegawa Y, Shigematsu Y, Hasegawa Y
Organizer
Annual symposium of the society for the study of inborn erroros of metabolism
Place of Presentation
Innsbruck (Austria)
Year and Date
2014-09-02 – 2014-09-05
Related Report
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[Presentation] The first case of HSD10 disease (2-Methyl-3-Hydroxybutyryl-CoA dehydrogenase deficiency) from Asia2013
Author(s)
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Hasegawa Y, Shigematsu Y, Ohtake A, Moriyama Y, Usuda N, Hasegawa Y
Organizer
The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases
Place of Presentation
幕張
Related Report
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