| Budget Amount *help |
¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Outline of Final Research Achievements |
Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant disease showing chronic and progressive hereditary nephritis caused by mutations of fibronectin 1 gene (FN1) that encodes fibronectin. We could find mutations of all patients diagnosed as GFND by pathologically findings. And we found seven novel mutations of FN1. There are heparin-binding domains and integrin-binding domains in FN1, which play major roles in assembly of FN. We found one new mutation (p.1472del) located in integrin-binding domain. The p.P1472del mutant protein showed decreased cell binding ability via the integrin-binding site, and three-dimensional structures showed lower energetically stability and significantly weaker integrin-docking compared with the wild-type.
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