Analysis for the pathogenesis and the target molecules of treatment for autism focusing on G-protein coupled receptors and synaptic molecules
| Project/Area Number |
23390275
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | Jichi Medical University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
NAGATA Kouichi 愛知県心身障害者コロニー発達障害研究所, 神経制御学部, 部長 (50252143)
MIRI Masato 自治医科大学, 医学部, 講師 (10337347)
NOZAKI Yasuyuki 自治医科大学, 医学部, 助教 (90281295)
NAKASHIMA Naomi 自治医科大学, 医学部, 助教 (20337330)
MONDEN Yukifumi 自治医科大学, 医学部, 講師 (80382951)
NAGASHIMA Masako 自治医科大学, 医学部, 助教 (70438662)
JINBO Eriko 自治医科大学, 医学部, 講師 (20291651)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Fiscal Year 2013: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2012: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
Fiscal Year 2011: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
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| Keywords | 自閉症スペクトラム障害 / コピー数多型 / 遺伝子変異 / 足場蛋白 / LIN7 / セクレチン / シナプス / G蛋白結合型受容体 / マイクロアレーCGH / コピー数多型（CNV) / シナプス足場蛋白 / 自閉性障害 / 病因遺伝子 / CNV / 候補遺伝子解析 / モデルマウス / セクレチン受容体 |
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| Research Abstract |
To detect the relating genes and the treatment of autism spectrum disorder (ASD), we analyzed ASD and intellectual disability patients for copy number variation and candidate gene mutation. Scaffolding proteins such as SHANK3 and LIN7A/B were detected as responsible gene. Lin7a/b were considered to have important role on neuronal development because neuronal cell movement and axon elongation were disturbed by blocking the expression of Lin7a/b in fetal brain. We previously detected gene mutations on the G-protein coupled receptors (GPCRs). Addition to them, mutations on secretin receptor gene that is one of the GPCR were detected. Expression of oxytocin and vasopressin were increased after intra-ventricular injection of secretin. These results indicated that scaffolding proteins and GPCRs closely related to ASD and the molecules relating to them were the targets for the treatment research.
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Report
(4 results)
Research Products
(42 results)
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[Journal Article] Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination2012
Author(s)
Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T
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Journal Title
J Hum Genet
Volume: 57
Issue: 9
Pages: 593-600
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012
Author(s)
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
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Journal Title
Nat Genet
Volume: 44
Issue: 4
Pages: 376-378
DOI
Related Report
Peer Reviewed
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