pathology of glomerulopathy with fibronectin deposits
| Project/Area Number |
24791062
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Kobe University |
|---|
Principal Investigator |
OHTSUBO Hiromi 神戸大学, 医学部附属病院, その他 (60568806)
|
|---|
| Project Period (FY) |
2013-02-01 – 2015-03-31
|
| Project Status |
Completed (Fiscal Year 2014)
|
| 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)
|
|---|
| Keywords | フィブロネクチン腎症 / フィブロネクチン / 遺伝性腎疾患 / 慢性腎臓病 / 遺伝性腎症 / 腎不全 |
|---|
| 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.
|
Report
(3 results)
Research Products
(4 results)
-
-
-
-
[Book] 腎と透析2014
Author(s)
大坪 裕美、野津 寛大、飯島 一誠
Total Pages
3
Publisher
東京医学社
Related Report
