Evaluation of pathogenicity of novel mutations and generation of disease model for myofibrillar myopathy by using transgenic medaka
| Project/Area Number |
23890256
|
|---|
| Research Category |
Grant-in-Aid for Research Activity Start-up
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | National Center of Neurology and Psychiatry |
|---|
Principal Investigator |
OHISA Satoshi 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一部, 流動研究員 (90610840)
|
|---|
| Project Period (FY) |
2011 – 2012
|
| Project Status |
Completed (Fiscal Year 2012)
|
| Budget Amount *help |
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
|---|
| Keywords | 筋原線維性ミオパチー / トランスジェニックメダカ / BAG3 / MFM |
|---|
| Research Abstract |
We evaluated pathogenicity of novel mutations in Japanese cohort by using transgenic medaka. Mutated BAG3 transgenic medaka showed clinicopathological feature of MFM such as lateral curvature of body axis, variation in muscle fiber size, and accumulation of mutated protein and Z line associated proteins. These results suggest that novel mutation in BAG3 is causative for MFM.
|
Report
(3 results)
Research Products
(3 results)
