2015 Fiscal Year Final Research Report
Synaptic dysfunction of Autism spectrum disorder relating to the dysfunction of scaffold protein and circadian related genes.
| Project/Area Number |
26893252
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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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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| Project Period (FY) |
2014-08-29 – 2016-03-31
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| Keywords | 自閉症スペクトラム / 発達障害 / サーカディアンリズム異常 |
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| Outline of Final Research Achievements |
Array comparative genomic hybridization (CGH) analysis for an autism spectrum disorder (ASD) patient, a 73 Kb duplication at 19q13.33 including LIN7B was detected. We then identified a novel frameshift mutation in LIN7B in an ASD patient.
In utero electroporation, suppression of Lin-7B in utero electroporation method resulted the migration of cortical neurons and axon extension to the contralateral hemisphere was delayed.
Lin-7B is possible to be implicated in the pathophysiology in ASD, and abnormal neuronal migration and interhemispheric axon development might contribute to the clinical symptoms of ASD. About 44-83% of children with ASD are suffering from sleep problems. We screened circadian-relevant genes in ASD with and without sleep disturbance group, and control group. In all of ASD (P=0.001), non-synonymous mutations were significantly frequently detected than control group. Circadian-relevant genes may be involved in the psychopathology of ASD.
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| Free Research Field |
小児神経
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