| Budget Amount *help |
¥16,380,000 (Direct Cost: ¥12,600,000、Indirect Cost: ¥3,780,000)
Fiscal Year 2017: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2016: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2015: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
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| Outline of Final Research Achievements |
We identified two dominant mutations in ORAI1 gene in tubular myopathy patients. The patients’ cells and the cells expressing the mutated ORAI1 showed constitutive activation of ORAI1 channels showing extracellular calcium entry dependent on extracellular calcium concentration.
We chronologically analyzed the muscle pathology of mouse model with a dominant ORAI1 mutation. The muscle phenotypes were quite milder, nevertheless they showed necrosis and regeneration.We produced new mouse model with a dominant STIM1 mutation. These mice revealed small body weight and had atrophic muscles. On muscle pathology, severe phenotypes were observed showing remarkable dystrophic changes, necrosis and centrally-placed fibers as well as enhanced fibrosis and ectopic adipose tissue replacement.
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