Analysis on new mechanisms causing abnormal glycogenolysis

2014 Fiscal Year Final Research Report

• 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
• 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.

Free Research Field

小児科学