| Project/Area Number |
20591239
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 | National Center of Neurology and Psychiatry |
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Principal Investigator |
UCHINO Shigeo National Center of Neurology and Psychiatry, 神経研究所代謝研究部, 室長 (30392434)
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| Co-Investigator(Kenkyū-buntansha) |
ITOH Masayuki (独)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)
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| Co-Investigator(Renkei-kenkyūsha) |
OKAMOTO Nobuhiko 大阪府立母子保健総合医療センター研究所, 小児科医, 参事 (30416242)
NAMBA Takashi (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (70462794)
WAGA Chikako (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (80462795)
GONDA Yuko (独)国立精神・神経医療研究センター, 神経研究所代謝研究部, 流動研究員 (60424181)
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| Project Period (FY) |
2008 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 広汎性発達障害 / シナプス / Shank3 / エピジェネティクス / DNAメチル化、 / MeCP2 / ゲノム / 脳発達 / 自閉症 / 精神遅滞 / 22q13.3欠失症候群 / SHANK3 / 言語障害 / 遺伝子診断 |
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| Research Abstract |
Cumulative evidence has shown that abnormal synaptic function represents neuropathogenesis of autism spectrum disorders (ASDs). In this study, we focused on SHANK3 gene, which encodes a synaptic molecule and is identified as a responsible gene for 22q13.3 deletion syndrome. We found novel mutations within CpG islands of SHANK3 gene in ASDs patients, and confirmed the expression of several variants of SHANK3 transcripts from the CpG island region. Further studies show that SHANK3 variants are involved in synaptic dysfunction and autistic behaviours.
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