A study for molecular pathomechanism of neurodevelopment disorders causing epigenetic dysfunction
| Project/Area Number |
24390270
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Partial Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | National Center of Neurology and Psychiatry |
|---|
Principal Investigator |
Masayuki Itoh 国立研究開発法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 (50243407)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
MATSUDA Junichirou 国立研究開発法人 医薬基盤・健康・栄養研究所, 難病・疾患資源研究部, 研究リーダー (60181731)
TAKAHASHI Satoshi 国立大学法人 旭川医科大学, 医学部小児科学, 講師 (10431404)
|
|---|
| Project Period (FY) |
2012-04-01 – 2016-03-31
|
| Project Status |
Completed (Fiscal Year 2015)
|
| Budget Amount *help |
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2015: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2013: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
|
|---|
| Keywords | エピゲノム / 発達障害 / レット症候群 / MeCP2 / IGFBP3 / モデル動物 / インプリンティング |
|---|
| Outline of Final Research Achievements |
Neurodevelopmental disorders contain many systemic-epigenome disrupted diseases, like Rett syndrome (RTT). As well-known, epigenome-system in brain plays an important role in control of mental state. On the other hand, the abnormality of MECP2 gene, that is major causative gene of RTT and its product mainly works transcription repressor, presents two different phenotypes of RTT and Angelman syndrome. Moreover, it has been reported strongly functional relationship of MECP2 gene and chromosome 15q11-q13 (AS-PWS imprinting region).
In the present study, we performed MeCP2 functional analyses and recovery study, using original mecp2-expression control mice and multiple approaches. As the results, we revealed that molecular pathophysiology of abnormal MeCP2 gene and discovered some candidate factors to be mild phenotypes of RTT and critical period for any treatment. From the study, we could learn the important factors of epigemone system in developmental disorders.
|
Report
(5 results)
Research Products
(14 results)
-
[Journal Article] miR-199a links MeCP2 with mTOR signaling and its dysregulation leads to Rett Syndrome phenotypes.2015
Author(s)
Tsujimura K, Irie K, Nakashima H, Egashira Y, Fukao Y, Fujiwara M, Itoh M, Uesaka M, Imamura T, Nakahata Y, Yamashita Y, Abe T, Takamori S, Nakashima K.
-
Journal Title
Cell Reports
Volume: 12
Pages: 1-15
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
-
[Journal Article] Expression of Astrocyte-related Receptors in Cortical Dysplasia with Intractable Epilepsy2014
Author(s)
Sukigara S, Dai H, Nabatame S, Otsuki T, Hanai S, Honda R, Saito T, Nakagawa E, Kaido T, Sato N, Kaneko Y, Takahashi A, Sugai K, Saito Y, Sasaki M, Goto Y, Koizumi S, Itoh M
-
Journal Title
J Neuropathol Exp Neurol
Volume: 73
Pages: 798-806
Related Report
Peer Reviewed / Acknowledgement Compliant
-
-
[Journal Article] Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome.2013
Author(s)
Miyake K, Yang C, Minakuchi Y, Ohori K, Soutome M, Endoh K, Hirasawa T, Kazuki Y, Adachi N, Suzuki S, Itoh M, Goto Y, Andoh T, Kurosawa H, Oshimura M, Sasaki M, Toyoda A, Kubota T.
-
Journal Title
PLoS ONE
Volume: 8
Pages: 66729-66729
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
-
-
-
-
