Study of relationship between autistic/intellectual disorder and neuronal chronic inflammation on mucopolysaccharidosis type III
Project/Area Number |
26461550
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Osaka City University |
Principal Investigator |
SETO Toshiyuki 大阪市立大学, 大学院医学研究科, 講師 (60423878)
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Co-Investigator(Kenkyū-buntansha) |
田中 あけみ 大阪市立大学, 大学院医学研究科, 准教授 (30145776)
濱崎 考史 大阪市立大学, 大学院医学研究科, 准教授 (40619798)
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Project Period (FY) |
2014-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
Keywords | ムコ多糖症 / サイトカイン / プテリジン / 自閉症 / 知的障害 / 遺伝学的未診断 / 免疫不全 / 慢性炎症 / 先天代謝異常症 / 髄膜炎 / ネオプテリン / ムンプスウイルス / エンテロウイルス / iPS細胞 |
Outline of Final Research Achievements |
Neuroglial complications, which are intellectual disability (ID) and autistic disorder, of congenital mucoporysaccharidosis (MPS) are speculated to be related with chronic inflammation in central nervous system. We have studied the pathological mechanism compared with various children with autism and ID. In order to evaluate inflammation on MPS patient we performed analysis of pteridine derivatives and cytokines, it clarified elevated some markers of inflammation. On the other hand, in order to study pathology of MPS brain, we used MPS type II model mice (IDS-KO). It was revealed that there were vacuoles in various type of cells in the brain by electron microscopy and immunostaining related autophagy. It was effective to administrate drug for suppression of autophagy in IDS-KO pathologically. Longitudinal study of MRI on MPS type II, it was shown that hematopoietic stem cell transplantation was effective for brain to some extent.
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Report
(5 results)
Research Products
(90 results)
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[Journal Article] Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.2017
Author(s)
Kubski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal S, Giugliani R, Dung VC, Ngoc CTB, Yamaguchi S, Montao AM, Orii KE, Fukao T, Shintaku H, Orii T, Tomatsu
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Journal Title
Biol Blood Marrow Transplant
Volume: 23
Issue: 10
Pages: 1795-1803
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Genetic Background Identification in Four Children with Intellectual Disability and/or Autism Spectrum Disorder2017
Author(s)
Yamashita K, Yamamoto T, Hoshina T, Sakuma S, Shintaku H, Suzuki T, Tsurusaki Y, Matsumoto N, Seto T.
Organizer
14th Asian and Oceanian Congress of Child Neurology, May 11th, 2017 (Fukuoka, Japan,)
Related Report
Int'l Joint Research
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[Presentation] The Efficacy and Role of Corpus Callosotomy for Epileptic Spasm2017
Author(s)
Uda T, Kunihiro N, Mastusaka Y, Kawawaki H, Okazaki S, Kuki I, Inoue T, Nukui M, Seto T, Sakuma S, Sakamoto H, Ohata K.
Organizer
14th Asian and Oceanian Congress of Child Neurology, May 11th, 2017 (Fukuoka, Japan,)
Related Report
Int'l Joint Research
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[Presentation] Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis II.2017
Author(s)
Tomatsu S, Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Yamaguchi S, Orii KE, Orii T.
Organizer
The 15th Asian Symposium of Inherited Metabolic Diseases, The 59th Annual meeting of the Japanese Society for Inherited Metabolic Diseasese, October 12-14, 2017. (Kawagoe, Japan)
Related Report
Int'l Joint Research
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[Presentation] Clinical features of mucopolysaccharidosis type VII “Case series in Japan”.2017
Author(s)
Kasuga S, Kadono C, Kudoh S, Terai H, Seto T, Hamazaki T, Shintaku H.
Organizer
The 15th Asian Symposium of Inherited Metabolic Diseases, The 59th Annual meeting of the Japanese Society for Inherited Metabolic Diseasese, October 12-14, 2017. (Kawagoe, Japan)
Related Report
Int'l Joint Research
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[Presentation] Genetic analysis of Japanese patients with neurofibromatosis type 1 and the neurological complications.2017
Author(s)
Fujita K, Yamashita K, Hoshina T, Hikita N, Sakuma S, Shintaku H, Fukai K, Takenouchi T, Uehara T, Kosaki K, Saya H, Seto T.
Organizer
The American Society of Human Genetics Annual Meeting, October 17-21, 2017.(Orlando, FL, USA)
Related Report
Int'l Joint Research
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[Presentation] A novel IDS gene mutation in two Japanese patients with severe mucopolysaccharidosis type II and correlation between developmental outcomes.2017
Author(s)
Kasuga K, Kadono C, Kudou S, Fujita K, Hikita N, Nishigaki S, Seto T, Hamazaki T, Shintaku H.
Organizer
The American Society of Human Genetics Annual Meeting, October 17-21, 2017.(Orlando, FL, USA)
Related Report
Int'l Joint Research
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[Presentation] てんかん性スパズムに対する脳梁離断の成績と意義2016
Author(s)
宇田 武弘, 馬場 良子, 松阪 康弘, 國廣 誉世, 川脇 壽, 岡崎 伸, 九鬼 一郎, 温井 めぐみ, 井上 岳司, 福岡 正隆, 金 聖泰, 瀬戸 俊之, 佐久間 悟, 坂本 博昭, 大畑 建治
Organizer
第50回日本てんかん学会学術集会
Place of Presentation
グランシップ(静岡市)
Year and Date
2016-10-08
Related Report
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[Presentation] 小児の小脳失調症の一例2014
Author(s)
神田裕樹, 角南貴司子, 山本秀文, 瀬戸 之, 山根英雄
Organizer
第73回日本めまい平衡医学会総会
Place of Presentation
パシフィコ横浜 (神奈川県・横浜市)
Year and Date
2014-11-05 – 2014-11-07
Related Report
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[Presentation] 遺伝性圧脆弱性ニューロパチーの姉弟例2014
Author(s)
藤田賢司, 瀬戸俊之, 山下加奈子, 服部妙香, 匹田典克, 新宅治夫
Organizer
第56回日本小児神経学会学術集会
Place of Presentation
アクトシティ浜松 (静岡県・浜松市)
Year and Date
2014-05-29 – 2014-05-31
Related Report
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