Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency

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• 作者：Sara Simonelli ; Cristina Tinti ; Laura Salvini ; Laura Tinti ; Alice Ossoli ; Cecilia Vitali ; Vitor Sousa ; Gaetano Orsini ; Maria Luisa Nolli ; Guido Franceschini ; Laura Calabresi
• 关键词：LCAT ; Familial LCAT deficiency ; Lipoproteins ; HDL
• 刊名：Biologicals
• 出版年：November, 2013
• 年：2013
• 卷：41
• 期：6
• 页码：446-449
• 全文大小：595 K

文摘

Lecithin:cholesterol acyltransferase (LCAT) is the enzyme responsible for cholesterol esterification in plasma. Mutations in the LCAT gene leads to two rare disorders, familial LCAT deficiency and fish-eye disease, both characterized by severe hypoalphalipoproteinemia associated with several lipoprotein abnormalities. No specific treatment is presently available for genetic LCAT deficiency. In the present study, recombinant human LCAT was expressed and tested for its ability to correct the lipoprotein profile in LCAT deficient plasma. The results show that rhLCAT efficiently reduces the amount of unesterified cholesterol (鈭?0%) and promotes the production of plasma cholesteryl esters (+210%) in LCAT deficient plasma. rhLCAT induces a marked increase in HDL-C levels (+89%) and induces the maturation of small pre尾-HDL into alpha-migrating particles. Moreover, the abnormal phospholipid-rich particles migrating in the LDL region were converted in normally sized LDL.