| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
The onset of autism spectrum disorder(ASD) caused by a mutation of the ASD related genes, was considered to be involved in not only loss of function of mutant protein but also gain of function induced by mutant protein. As a common pathology, we assumed an endoplasmic reticulum (ER) stress induction and imbalance of synaptic function by mutation.
As an analysis of the influence of ASD related genes including CADM1 on ER stress, expression of ER stress markers was analyzed after ER stress induction with reagents in patients with mutations and patient families lymphoblasts. Lymphoblasts with mutations were found to be highly susceptible to ER stress. In CADM1 mutation knock-in mice cerebellum, identifying the inhibitory-excitatory synaptic balance is unbalanced, it was suggested the association between mutations and synaptic balance.
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