| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
Peroxisomal biogenesis disorder (PBD) is a congenital metabolic disease mainly appear in newborns and infants. A fish disease model was established using the zebrafish and analyzed in this work. Disease-related PEX2 gene was mutated in zebrafish using a genome editing technique and two disease model fish lines were recovered, each of them possesses a strong mutation or a weak mutation of PEX2 gene. The fish with the strong mutation died in 1-2 months after birth while with the weak mutation survived around 8 months old and then died, recapitulating human patients who have a strong or a weak mutation. A deformation of the liver was found in the disease-model fish and a swimming defect was also manifested. Metabolic abnormality was also found such as an abnormally higher amount of tissue very-long chain fatty acids that is also remarkable in the human patients of this disease. With this model fish, a further analysis will be performed for understanding the detailed pathology of PBD.
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