2011 Fiscal Year Final Research Report
Molecular basis of disorders in ketone body metabolism and regulation of genes involving in its metabolism
| Project/Area Number |
21591317
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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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 |
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝・先天異常学 / 人類遺伝 / 先天代謝異常 |
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| Research Abstract |
We established MLPA analysis of ACAT1 and OXCT1 genes to improve molecular diagnosis of beta-ketothiolase(T2) deficiency and succinyl-CoA : 3-ketoacid CoA transferase deficiency, respectively. We published papers describing 1) T2 "mild" mutation and its effects on clinical(chemical) phenotype 2) clinical characterization of 5 SCOT deficient patients, their mutations, mutational effects on tertiary structure of SCOT molecules. We analyzed splicing order of SCOT transcript in controls and a patient of which SCOT mRNA had two exon skipping. We also analyzed liver-specific silencing of SCOT using Chip assay.
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Research Products
(39 results)
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[Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare a mutation, c. 431A> C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry.2012
Author(s)
Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM<Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N
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Journal Title
JIMD reports
Volume: 3
Pages: 107-115
Peer Reviewed
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[Journal Article] Differences between human and rodent pancreatic islets : low pyruvate carboxylase, ATP citrate lyase and pyruvate carboxylation ; high glucose-stimulated acetoacetate in human pancreatic islets2011
Author(s)
Macdonald MJ, Longacre MJ, Stoker SW, Kendrick MA, Thonpho A, Brown LJ, Hasan NM, Jitrapakdee S, Fukao T, Hanson MS, Fernandez LA, Odorico J
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Journal Title
J Biol Chem
Volume: 286
Pages: 18383-18396
Peer Reviewed
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[Journal Article] Clinical and molecular characterization of five patients with Succinyl-CoA : 3-ketoacid CoA transferase(SCOT) deficiency2011
Author(s)
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N
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Journal Title
Biochimica Biophysica Acta Molecular Basis of Disease
Volume: 1812
Pages: 619-24
Peer Reviewed
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[Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency2010
Author(s)
Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N
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Journal Title
Mol Genet Metab
Volume: 100(1)
Pages: 37-41
Peer Reviewed
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[Presentation] HMG-CoA lyase deficiency in Japan : Question-based follow-up study2011
Author(s)
Fukao T, Yamaguchi S, Takayanagi m, Shigematsu Y, Ishige M, Tanaka T, Takahashi T, Ihara T, Murakami J, Ohtsu Y, Onigata K, Kosaka K, Yorifuji T, Kondo N
Organizer
2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
Place of Presentation
Geneva, Swizerland
Year and Date
20110830-0902
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[Presentation] Clinical and molecular studies of five patients with succinyl-CoA : 3-ketoacid CoA transferase deficiency2010
Author(s)
Fukao T, Sass, JO, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot M-T, Kondo N
Organizer
2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism
Place of Presentation
Istanbul, Turkey
Year and Date
20100831-0903
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[Presentation] A common mutation R208X identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency2010
Author(s)
Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Ngoc Thi Bich Can, Dung Chi Vu, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Liem Thanh Nguyen, Seiji Yamaguchi, Naomi Kondo
Organizer
The 1st Asian Congress for Inhetited Metabolic Diseases
Place of Presentation
Fukuoka, Japan
Year and Date
20100307-10
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