2016 Fiscal Year Final Research Report
Elucidation of pathogenesis of mevalonate kinase deficiency with clinical samples, iPS cells, and mouse model
| Project/Area Number |
15K19610
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Kyoto University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2015-04-01 – 2017-03-31
|
| Keywords | iPS細胞 / 自己炎症性疾患 / サイトカイン |
|---|
| Outline of Final Research Achievements |
We produced CD14-positive blood cells through iPS cells derived 3 MKD patients and 2 healthy controls. The MK activity of patient-derived blood cells was potently reduced and below 2% of healthy controls, so the phenotype of the peripheral blood cells was reproduced in iPS cell-derived blood cells. Next, we compared IL-1beta secretion from iPS-derived blood cells, but found no difference between parient-derived and control cells.
We developed genetically-engineered mouse that express heterozygous mutant MVK gene. Then we bred them and obtained homozygous mutant mouse.
We identified 10 Japanese MKD patients in total, including newly-diagnosed patients during the research period. We are preparing to submit a paper regarding the clinical and laboratory information.
|
| Free Research Field |
免疫学
|
