Analysis of POLD1 gene function that causes lipoatrophic diabetes mellitus

Research Project

Project/Area Number	16K19650
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Pediatrics
Research Institution	Kyushu University
Principal Investigator	OHKUBO KAZUHIRO 九州大学, 医学研究院, 助教 (60737576)
Project Period (FY)	2016-04-01 – 2018-03-31
Project Status	Completed (Fiscal Year 2017)
Budget Amount *help	¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000) Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000) Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords	脂肪萎縮性糖尿病 / PIK3R1 / SHORT症候群の迅速診断 / POLD1遺伝子解析 / 小児内分泌学
Outline of Final Research Achievements	Lipoatrophic diabetes mellitus occurs by leptin deficiency and insulin resistance due to lipoatrophy.　AGPAT, BSCL2, CAV1, POLD1 etc. have become known as responsible genes for this disease. Here, we found novel unknown insertion mutation in PIK3R1 gene for a patient with lipoatrophic diabetes mellitus. Moreover, we identified insulin signal abnormality by peripheral blood analysis of this patient. We think that this is meaningful result because there is a potential for easy and rapid diagnosis for this disease by peripheral blood analysis.