| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Outline of Final Research Achievements |
Neurodegeneration with brain iron accumulation (NBIA) is a set of degenerative extrapyramidal monogenic disorders with radiological evidence of focal accumulation of iron in the brain, usually in the basal ganglia. In this study, we investigated the relationship between autophagy and NBIA causative genes. Knockdown using siRNA of a part of NBIA genes influenced autophagy or lysosomal system. To investigate those genes function more precisely, we tried to establish knockout (KO) cell lines using CRISPR/Cas9 system. We could successfully obtain FTL KO cells. FTL KO cells showed the reduction of ferritin-selective autophagy (ferritinophagy) flux, the reduction of mitochondrial function and the vulnerability against oxidative stress. Those phenotypes of FTL KO cells must tightly associate with the mechanism of NBIA disease onset.
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