| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
We focused on a schizophrenia case with a balanced chromosomal translocation. We determined the precise structure of the patient's genome. We found the DISC-M is a gene that is the most proximal to the breakpoint within chr.4. In cells from the patient, the expression of DISC-M was significantly unregulated. We confirmed that the DISC-M gene product forms various transcription complexes by co-immunoprecipitation assay, regulating the expressions of multiple genes in the brain. Rare mutations that were found in bipolar patients did not affect the efficiency of the protein complex formation. Interestingly, those two mutations appeared to stabilize the DISC-M protein in the cells.
In conclusion, DISC-M support normal brain development by regulating the expressions of downstream genes, and the dysfunction of the gene and gene networks governed by DISC-M might form a predisposition to mental disorders such as schizophrenia and bipolar disorder.
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