| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| 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.
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