2012 Fiscal Year Final Research Report
Genetic and functional analysis of synaptic molecule in mental retardation and pervasive developmental disorder
| Project/Area Number |
23791207
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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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 |
WAGA Chikako 独立行政法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 科研費研究員 (80462795)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 精神遅滞 / 広汎性発達障害 / シナプス遺伝子解析 |
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| Research Abstract |
Cumulative evidence has shown that abnormal synaptic function represent neuropashognesis of mental retardation (MR) and pervasive developmental disorder (PDD), and one of the major causes are gene mutation. In this study, we focused on SYP, RAB39B, GRIA3 and SHANKS genes, which encode synaptic molecules, and analyzed those genes in MR and PDD patients. We found 2 novel mutations in SYP gene, and 8 novel missense mutations in SHANKS gene in patients.
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