2013 Fiscal Year Final Research Report
Crosstalk between serotonin and mTOR systems: molecular pathology in autism and its treatment
| Project/Area Number |
24659490
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
MIZUGUCHI Masashi 東京大学, 医学(系)研究科(研究院), 教授 (20209753)
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| Co-Investigator(Kenkyū-buntansha) |
IKEDA Kazutaka 東京都医学総合研究所, 参事研究員 (60281656)
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| Co-Investigator(Renkei-kenkyūsha) |
SATO Atsushi 東京都医学総合研究所, 研究員 (60466745)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 小児神経学 / 発達障害 / 自閉症 / シグナル伝達 / 結節性硬化症 / トランスレーショナルリサーチ |
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| Research Abstract |
We conducted a translational research to understand the pathomechanism of autism on the basis of abnormal signal transduction in the brain, and to establish animal models for the development of drug treatment (molecular target therapy). Using animal models (Tsc1 and Tsc2 knockout mice) of tuberous sclerosis complex (TSC), an autosomal dominantly inherited disorder that frequently presents with autism, we observed the cardinal symptom of autism, impaired social interaction, and its improvement by treatment with an mTOR inhibitor, elucidated the molecular basis, and recapitulated the clinical findings in human TSC patients that Tsc2 mutations tend to be severer than Tsc1 mutations.
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