| Budget Amount *help |
¥16,120,000 (Direct Cost: ¥12,400,000、Indirect Cost: ¥3,720,000)
Fiscal Year 2016: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2015: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2014: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
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| Outline of Final Research Achievements |
Early onset cynomolgus macaque monkey with macular drusen was characterized to identify disease-causing mutation and pathological change at tissue and cellular level. The affected monkeys with dominant inheritance develop drusen at two years after birth. Whole genome and whole exome analysis were preformed to narrow the disease locus to a small region on chromosome 1. Three candidate genes were identified to cosegregate with macular drusen. The retinal pigment epithelial (RPE) cells in the fovea of affected monkeys were identified to lose the characteristic of the epithelial cells, Epithelial-Mesenchymal Transition-like phenomenon, leading to change of cell morphology, decreased of autophagy and phagocytosis activities. Complement inhibitors were administered to affected monkey to suppress formation of drusen. Potential inhibitors are being developed.
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