Analysis on new mechanisms causing abnormal glycogenolysis
Project/Area Number |
24591534
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Okinaka Memorial Institute for Medical Research |
Principal Investigator |
OKUBO Minoru 公益財団法人冲中記念成人病研究所, その他部局等, 研究員 (60241238)
|
Project Period (FY) |
2012-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | グリコーゲン / 糖原病 |
Outline of Final Research Achievements |
We found that large deletions encompassing several exons in AGL or aberrant splicing due to mutations in introns caused abnormal breakdown of glycogen. Conventional analysis failed to detect mutations in certain patients with glycogen storage disease type III; however, new methods, such as re-sequencing, exon copy number assay, mRNA analysis by RT-PCR, and exome sequencing, successfully detected mutations in AGL.
|
Report
(4 results)
Research Products
(4 results)