Development and its application of the comprehensive analysis system to hypertriglyceridemia: mainly on nongenetic factors

2014 Fiscal Year Final Research Report

• Project/Area Number: 24500883
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Applied health science
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: TAKAGI Atsuko 独立行政法人国立循環器病研究センター, 研究所, 室長 (90179416)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 高トリグリセリド血症 / リポ蛋白リパーゼ / 動脈硬化 / 心疾患 / 自己免疫疾患 / 全身性エリテマトーデス

Outline of Final Research Achievements

Hypertriglyceridemia is one of the risk factors for coronary heart disease, and it is caused by an abnormality of lipoprotein lipase (LPL) that is mainly associated with catabolism of triglyceride in the circulation. Causes of LPL abnormality were examined on the point of LPL gene, other genes and nongenetic factors associated with LPL function.
A hypertriglyceridemic subject-1 with low LPL mass exhibited one base deletion on exon 5 of LPL gene, leading to abnormal LPL. Two-hypertriglyceridemic subject-2 and 3, whose LPL genes were normal, were examined for GPIHBP1 gene associated with LPL function, and both of them showed a nonsynonymous mutation of T to G on exon 1, respectively. A hypertriglyceridemia subject-4 with low LPL mass due to autoimmune disease was normal in LPL gene, but her hypertriglyceridemia was caused by an autoantibody of IgA type inhibiting LPL activity. In this study, we developed a simple system for the detection of autoantibodies inhibiting LPL activity.

Free Research Field

分子遺伝学　リポ蛋白代謝学