Basic and clinical research for innovated biological marker and new treatment strategy inpatients with Rett syndrome
| Project/Area Number |
24591531
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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 | Kurume University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
YAMASHITA Yushiro 久留米大学, 医学部, 教授 (90211630)
TAKAHASHI Tomoyuki 久留米大学, 医学部, 准教授 (20332687)
NISHI Yoshihiro 久留米大学, 医学部, 講師 (20352122)
MIFUNE Hiroharu 久留米大学, 医学部, 准教授 (70174117)
MATSUMOTO Naomichi 横浜市立大学, 医学系研究科, 教授 (80325638)
江良 択実 熊本大学, 学内共同利用施設等, 教授 (00273706)
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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 |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | レット症候群 / SHANK3遺伝子 / ES細胞 / モデル動物 / 不整脈 / 心臓分化 / グレリン / MeCP2 / モデルマウス / ghrelin / IGF-1 / QT延長 / イオンチャンネル / 成長 / レット症候群モデル動物 / 骨髄移植 / iPS細胞 / 初代培養細胞 |
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| Outline of Final Research Achievements |
We established three basic and clinical research in Rett syndrome (RTT). We firstly demonstrated the De Novo SH3 and multiple ankylin repeat domain 3 (SHANK3) mutation causes RTT. We also revealed that loss of MeCP2 lead to dysregulation of endogeneous cardiac genes and myocardiac structure alterations. Furthermre, we detected methylation of the CpG islands in the Tbx5 locus, suggest MeCP2 is an important regulator. Taken together, these results suggest that MeCP2 is an important regulator of the gene-expression program responsible for maintaining normal cardiac development and cardiomyocyte structure. Ｗe also confirmed intravenous ghrelin administration ameliorate the clinical symptom in patients with RTT.
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Report
(4 results)
Research Products
(46 results)
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[Journal Article] Distinguishing primary from secondary Δ4 -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis2014
Author(s)
Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A
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Journal Title
Clin Endocrinol (Oxf)
Volume: 82
Issue: 3
Pages: 346-351
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Two neonatal cholestsis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.2013
Author(s)
Seki, Y., Mizuochi, T., Kimura, A., Takahashi T., Ohtake, A., Hayashi, S., Morimura, T., Ohno, Y., Hoshina, T., Ihara, K., Takei, H., Nittono H., Kurosawa T., Homma K., Hasegawa T., Matsuishi T.
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Journal Title
J Inherit Metab Dis
Volume: 36(3)
Issue: 3
Pages: 565-573
DOI
Related Report
Peer Reviewed
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[Journal Article] Characterization of urinary bile acids in a pediatric BRIC-1 patient: Effectof rifampicin treatment.2012
Author(s)
Mizuochi T., Kimura A., Tanaka A., Muto A., Nittono H., Seki Y., Takahashi T., Kurosawa T., Kage M., Takikawa H., Matsuishi T.
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Journal Title
Clin Chim Acta
Volume: 413(15-16)
Issue: 15-16
Pages: 1301-1304
DOI
Related Report
Peer Reviewed
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[Presentation] Analysis of cardic arrhythmias and gene expression in MeCP2-null mouse2014
Author(s)
4)Hara M, Takahashi T, Mitsumasu C, Igata S, Takano M, Okabe,Y, Tanaka E, Matsuishi T
Organizer
13th Rett syndrome Symposium
Place of Presentation
Chantilly, Washington, USA
Year and Date
2014-06-19
Related Report
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[Presentation] Quality of life (QOL) reported by children with ADHD and their moters participated in summer treatment program2014
Author(s)
Yamashita Y, Fujita F, Tada Y, Anai C, Mukasa A, Egami C, Okamura H, Yuge K, Ohya T, Iemura A, Nagamitsu S, Matsuishi T
Organizer
PAS/ASPR Joint Meeting
Place of Presentation
Vancouver カナダ
Year and Date
2014-05-03 – 2014-05-05
Related Report
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