Journal
ATHEROSCLEROSIS
Volume 228, Issue 1, Pages 193-197Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.atherosclerosis.2013.02.034
Keywords
Familial LCAT deficiency; Novel gene mutation; Cys74Tyr; Fat-restriction diet; Circulating lipoprotein profile; Renal function
Funding
- Health and Labour Sciences Research Grants for Translational Research for the research of primary hyperlipidemia
- Nichibei Japan
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Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a hereditary disease characterized by an abnormal lipid profile, corneal opacity, anemia and progressive renal disease. We report a patient with complete loss of LCAT activity due to a novel lcat gene mutation of Cys74Tyr in the lid region of LCAT protein. Esterification of cholesterol in this patient was disturbed by disruption of a substrate binding loop of Cys50-Cys74 in LCAT protein. She had progressive renal dysfunction, proteinuria, corneal opacity, anemia and an abnormal lipid profile. Her serum lipids showed a significant increase in abnormal lipoproteins at the original position in agarose gel electrophoresis and VLDL-cholesterol, and a severe decrease in serum HDL-cholesterol. Lipoprotein analyzes also revealed the presence of an abnormal midband lipoprotein, and a maturation disturbance of HDL particles. Renal function and proteinuria improved following the adoption of a fat-restricted diet and administration of an angiotensin II receptor blocker. The abnormal lipoproteins also decreased after this treatment. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
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