Physical Alterations of Plasma Lipoproteins in Tangier Disease and Their Hypothetic Involvement in Pathogenesis

  • Marie-France Dumon
  • Monique Freinex-Clerc
  • Nicole Dousset
  • Quoc Quan Dang
  • Arlette Maret
  • Robert Salvayre
  • Michel Clerc
  • Louis Douste-Blazy
Conference paper
Part of the NATO ASI Series book series (NSSA, volume 150)

Abstract

Tangier disease is a rare (around 28 cases reported) genetic disorder due to an autosomal recessive gene affecting HDL metabolism (1), characterized by two pathognomonic features: a striking deficiency of plasma HDL in combination with low cholesterol and normal or elevated triglycerides, and extra-lysosomal cholesteryl esters accumulation in histiocytes throughout the body (liver, spleen, lymph nodes, Schwann cells) and mainly in tonsils, intestinal mucosa and cornea (evident only by slit-lamps). In contrast various parenchymal cells (endothelial cells, smooth muscle cells of arteries and veins, hepatocytes) are not affected by the cholesteryl ester storage. In spite of the severe HDL deficiency, Tangier patient seems not affected with a premature atherosclerosis (4), in contrast to the correlation between cardiovascular disease and decreased HDL levels (2, 3). The absence of atherosclerosis in Tangier homozygotes is quite consistent with the lack of cholesterol deposition in the arterial wall.

Keywords

Cholesterol Foam Agarose Lipase Iodine 

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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • Marie-France Dumon
    • 1
  • Monique Freinex-Clerc
    • 1
  • Nicole Dousset
    • 2
  • Quoc Quan Dang
    • 2
  • Arlette Maret
    • 2
  • Robert Salvayre
    • 2
  • Michel Clerc
    • 1
  • Louis Douste-Blazy
    • 2
  1. 1.Laboratoire de Biochimie Médicale AUniversité de Bordeaux IIBordeauxFrance
  2. 2.Laboratoire de Biochimie et INSERM U.101, Faculté de MédecineToulouse CedexFrance

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