Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins

Metabolism: Clinical and Experimental
L ElkhalilGérald Luc

Abstract

Fish-eye disease (FED) in humans is characterized by corneal opacities and markedly decreased plasma concentrations of high-density lipoprotein (HDL) cholesterol, apolipoprotein (apo) AI, and apo All, but no tendency to precocious atherosclerosis is present. To elucidate this paradox, the structure of HDL, the potential of serum to promote cholesterol efflux from cultured cells, and the in vivo metabolism of HDL were examined in a 53-year-old woman with a FED syndrome in association with a markedly decreased lecithin:cholesterol acyltransferase (LCAT) activity in HDL due to a mutation of the LCAT gene (Arg158 --> Cys). HDLs isolated by ultracentrifugation were small and enriched in unesterified cholesterol and phospholipids at the expense of cholesteryl esters and proteins. The apolipoprotein content showed an enrichment in apo E and apo AIV, whereas apo AI and apo All were dramatically reduced. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and immunoblotting using specific antibodies showed that the apo E was free or covalently bound to apo All. These particles analyzed by electron microscopy were small and round lipoproteins with a size similar to the smallest fraction of normal HDL3. The potential capa...Continue Reading

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Citations

Jul 17, 2008·Vascular Health and Risk Management·Navin K KapurRoger S Blumenthal
Nov 3, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Cynthia García-SánchezOscar Pérez-Méndez
May 27, 2015·Archives of Medical Research·María Luna-LunaÓscar Pérez-Méndez
Dec 18, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Óscar Pérez-MéndezMartha Franco
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Nov 28, 2008·Clinica Chimica Acta; International Journal of Clinical Chemistry·Elizabeth Carreón-TorresOscar Pérez-Méndez

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