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• W2061631033 abstract "Background: Lecithin–cholesterol acyltransferase (LCAT) esterifies free cholesterol (FC) in plasma and plays a crucial role in the maturation of preβ1-HDL (lipid-poor HDL) into α-migrating HDL (spherical HDL). Natural mutations of LCAT gene cause familial LCAT deficiency (FLD) or fish-eye disease (FED). The relationship between mutations and their phenotypes gives important clues to the functions of specific regions of LCAT. We investigated the first homozygous case with a substitution of threonine to methionine at codon 13 (T13M) of LCAT gene. Methods: We evaluated LCAT activity, LCAT distribution among HDL subfractions and conversion of preβ1-HDL to α-migrating HDL by native two-dimensional gel electrophoresis (N-2DGE). Results: The proband had corneal opacity, severe hypo-α-lipoproteinemia, half-normal LCAT activity and near normal cholesteryl ester/total cholesterol (TC) ratio in plasma. These features were characteristic of FED. Plasma preβ1-HDL concentration was near normal, but not converted to α-migrating HDL during 37 °C incubation. As expected, α-migrating HDL (especially large particles) was markedly reduced. In the immunoblot against LCAT, the small α-migrating HDL from the proband had much less LCAT in this patient than in controls. Conclusion: T13M mutation of LCAT gene causes FED." @default.
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• W2061631033 date "2004-05-01" @default.
• W2061631033 modified "2023-10-16" @default.
• W2061631033 title "T13M mutation of lecithin–cholesterol acyltransferase gene causes fish-eye disease" @default.
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• W2061631033 doi "https://doi.org/10.1016/j.cccn.2004.01.014" @default.
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