Journal of Clinical Lipidology
Volume 4, Issue 4 , Pages 310-313 , July 2010

Proteinuria and severe mixed dyslipidemia associated with a novel APOAV gene mutation

  • Handrean Soran, MRCP

      Affiliations

    • Cardiovascular Research Group, School of Clinical & Laboratory Sciences, University of Manchester, Core Technology Facility (3rd Floor), 46 Grafton Street, Manchester, M13 9NT, United Kingdom
    • ,
  • Valentine Charlton-Menys, PhD

      Affiliations

    • Cardiovascular Research Group, School of Clinical & Laboratory Sciences, University of Manchester, Core Technology Facility (3rd Floor), 46 Grafton Street, Manchester, M13 9NT, United Kingdom
    • ,
  • Robert Hegele, MD

      Affiliations

    • Robarts Research Institute, University of West Ontario, Ontario, Canada
    • ,
  • Jian Wang, MD

      Affiliations

    • Robarts Research Institute, University of West Ontario, Ontario, Canada
    • ,
  • Emyr W. Benbow, FRCPath

      Affiliations

    • Department of Histopathology, Central Manchester and Manchester Children University Hospitals, Manchester, United Kingdom
    • ,
  • Ian Roberts, FRCPath

      Affiliations

    • Department of Histopathology, John Radcliffe Hospital, Oxford, United Kingdom
    • ,
  • Grahame Wood, FRCP

      Affiliations

    • Department of Nephrology, Hope Hospital, Eccles Old Road, Salford M6 8HD, United Kingdom
    • ,
  • Paul Durrington, FMedSci

      Affiliations

    • Cardiovascular Research Group, School of Clinical & Laboratory Sciences, University of Manchester, Core Technology Facility (3rd Floor), 46 Grafton Street, Manchester, M13 9NT, United Kingdom
    • Corresponding Author InformationCorresponding author.

Received 2 November 2009 ,Revised 7 June 2010 ,Accepted 26 June 2010.

References 

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  2. Durrington P. Hyperlipidaemia Diagnosis & Management. 3rd ed.. London: Hodder Arnold; 2007;
  3. Liberopoulos E, Siamopoulos K, Elisaf M. Apolipoprotein E and renal disease. Am J Kidney Dis. 2004;43:223–233
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  6. Fredrickson DS, Morganroth J, Levy RI. Type III hyperlipoproteinemia: an analysis of two contemporary definitions. Ann Intern Med. 1975;82:150–157
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  8. Wang J, Ban MR, Zou GY, et al. Polygenic determinants of severe hypertriglyceridemia. Hum Mol Genet. 2008;17:2894–2899
  9. Henneman P, Schaap FG, Havekes LM, et al. Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism. Atherosclerosis. 2007;193:129–134
  10. Grosskopf I, Baroukh N, Lee SJ, et al. Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants. Arterioscler Thromb Vasc Biol. 2005;25:2573–2579
  11. Schaap FG, Nierman MC, Berbee JF, et al. Evidence for a complex relationship between apoA-V and apoC-III in patients with severe hypertriglyceridemia. J Lipid Res. 2006;47:2333–2339
  12. Lookene A, Beckstead JA, Nilsson S, Olivecrona G, Ryan RO. Apolipoprotein A-V-heparin interactions: implications for plasma lipoprotein metabolism. J Biol Chem. 2005;280:25383–25387
  13. Merkel M, Loeffler B, Kluger M, et al. Apolipoprotein AV accelerates plasma hydrolysis of triglyceride-rich lipoproteins by interaction with proteoglycan-bound lipoprotein lipase. J Biol Chem. 2005;280:21553–21560
  14. Evans D, Seedorf U, Beil FU. Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia. Clin Genet. 2005;68:369–372
  15. Marcais C, Verges B, Charriere S, et al. ApoAa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. J Clin Invest. 2005;115:2862–2869

PII: S1933-2874(10)00229-1

doi: 10.1016/j.jacl.2010.06.004

Journal of Clinical Lipidology
Volume 4, Issue 4 , Pages 310-313 , July 2010

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