| Budget Amount *help |
¥14,820,000 (Direct Cost: ¥11,400,000、Indirect Cost: ¥3,420,000)
Fiscal Year 2014: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2013: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2012: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
|
|---|
| Outline of Final Research Achievements |
We performed genetic testing for the currently-known DYT genes and found mutations in 18 out of 61 cases (29.5%). Whole exome sequencing in two patients demonstrated a new candidate gene for dystonia, which is related to epigenetics. We are now analysing the biological abnormalities using conditional knock-out mice. In the study of DYT1 model mice, we found a down-regulation of mu-opioid receptor dominant in striosome, and are now confirming this using neuronal cell culture. As for A2NTX, the next generation botulinum toxin with high safety and efficacy than onabotulinumtoxinA (BOTOX), we finalized the patent applications all over the world by adding animal and human data.
|
