2015 Fiscal Year Final Research Report
New therapeutic agent for danon disease: reserch from patient specific iPSCs derived cardiomyocytes.
| Project/Area Number |
26860786
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Kanazawa University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2014-04-01 – 2016-03-31
|
| Keywords | danon病 / iPS細胞 |
|---|
| Outline of Final Research Achievements |
We manufactured hiPSCs from female patients of danon disease. Genomic sequencing of iPSCs were performed. We identified a 4-bp deletion in LAMP2 at the intron 6 splice site (IVS6+1_4delGTGA) in all lines of hiPSCs same as their whole blood as previously reported. However, we could not compare the differences between LAMP2 positive and negative iPSCs, because all of the iPSC lines were stained by LAMP2 antibody IF. cDNA sequence of LAMP2 was performed. Exon6 skipping was proved in some of the hiPSC lines (miPSCs) and the other lines(ciPSCs) had normal cDNA sequence of LAMP2.
We compared the difference between miPSCs and ciPSCs. The miPSCs derived cardiomyocytes had intracytoplasmic vacuoles which was thought to be autophagosome: the characteristics of danon disease. On the contrary, we could not find any abnormal vacuole in the cytoplasm of ciPSCs. We could not administer and make evaluation of the candidate therapeutic agent because of expiration of the term.
|
| Free Research Field |
循環器内科
|
