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Apolipoprotein E variants associated with lipoprotein glomerulopathy

Research Project

Project/Area Number 08671195
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field 内分泌・代謝学
Research InstitutionFukuoka University

Principal Investigator

SASAKI Jun  Fukuoka University, School of Medicine, Associate Professor, 医学部, 助教授 (90122697)

Co-Investigator(Kenkyū-buntansha) MATSUNAGA Akira  Fukuoka University, School of Medicine, Lecturer, 医学部, 講師 (60221587)
Project Period (FY) 1996 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥1,900,000 (Direct Cost: ¥1,900,000)
Fiscal Year 1997: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1996: ¥1,200,000 (Direct Cost: ¥1,200,000)
Keywordsapolipoprotein E / apo E / mutation / recombinant / expression / lipoprotein glomerulopathy / type III hyperlipidemia / リポ蛋白 / アポリポ蛋白 / 遺伝子 / 変異体
Research Abstract

Apolipoprotein (apo) E is a major protein constituent of chylomicrons, very low density lipoprotein, and their remnants. Apo E is a ligand for the chylomicron remnant and low density lipoprotein receptors. Homozygosity for apo E2 (Arg158Cys)-predisposes to the development of type III hyperlipoproteinemia which developed premature coronary and peripheral atherosclerosis. Lipoprotein glomerulopathy (LPG9 is a disease characterized by intraglomerular lipoprotein thrombi and type III hyperlipoproteinemia. We identified apo E variant, apo E (Arg145Pro) Sendai in ten independent patients with LPG.A survey of 100 unrelated Japanese individuals did not identify an apo E (Arg145Pro) Sendai. We also found a novel point mutation in apo E gene, apoE (arg25Cys) Kyoto in a patient with LPG.The propositus was a 30-year-old male patient on maintenance hemodialysis due to lipoprotein glomerulopathy. His plasma apo E level was 29.6mg/dl. Disdcrepancy in apo E phenotype (e2/E4) and genotype (e3/E4) was seen in the patient. Functional consequences of the mutation were examined by expressing the mutated and wild-type recombinant apo E cDNAs in E.coli or COS-1 cells. Recombinant apo E Kyoto showed a reduction in LDL-receptor binding renging from 6-7% of activity of normal apo E3. In conclusion.these data suggest that the mutation in the apo E gene may cause lipoprotein glomerulopathy.

Report

(3 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • 1996 Annual Research Report
  • Research Products

    (4 results)

All Other

All Publications (4 results)

  • [Publications] Shinichi Oikawa et al: "Apolipoprotein E Sendai(Arginine 145 Proline):A new Variant associated with lipoprotein glomerulopathy" Journal of American Society of Nephrology. 8. 820-823 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Shinichi Oikawa. et al.: "Apolipoprotein E Sendai (Arginine 145*Proline) : A New Variant Associated with Lopoprotein Glomerulopathy" Journal of American Society of Nephrology. 8. 820-823 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Shinichi Oikawa,et al.: "Apolipoprotein E Sendai(Arginine 145→Proline):A New Variant Associated with Lipoprotein Glomerulopathy" Journal of American Society of Nephrology. 8. 820-823 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Sasaki J: "Apolipoprotein E Sendai (Arginine 145→Proline) : A new variant associated with lipoprotein glomerulopathy." J Am Soc Nephrology. (in press.). (1997)

    • Related Report
      1996 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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