Evaluation of pathogenicity of novel mutations and generation of disease model for myofibrillar myopathy by using transgenic medaka

Research Project

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)