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Discovery of patients with hyper-HDL cholesterolemia possibly due to endothelial lipase (EL) and analysis of EL phisiological function

Research Project

Project/Area Number 26670450
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Metabolomics
Research InstitutionOsaka University

Principal Investigator

Yamashita Shizuya  大阪大学, 医学(系)研究科(研究院), 特任教授 (60243242)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords高HDL血症 / 内皮リパーゼ / endothelial lipase
Outline of Final Research Achievements

We found a subject who showed a marked hyper HDL-cholesterolemia with intima-media complex thickening of carotid artery, possibly due to extreme low plasma activity and concentration of endothelial lipase. HPLC analysis also showed that HDL particle was increased in diameter and contains rich TG. However, exon sequence analysis exhibited that significant mutations have not been found in the exon and exon-intron boundaries of EL. Therefore, we reexamined EL mass, but it is almost within normal limits. EL concentration have been shown to be influenced by various factors including stock conditions. In this case, EL concentration tends to be low, but its values often vary. Hyper HDL-cholesterolemia is considered to be due to mutations in upstream regulatory regions of EL genes or abnormalities of proteins which can modulate EL activity.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report

URL: 

Published: 2014-04-04   Modified: 2017-05-10  

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