文章基本信息

标题：Genetic connections between neurological disorders and cholesterol metabolism
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作者：Ingemar Björkhem ; Valerio Leoni ; Steve Meaney 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：2010
卷号：51
期号：9
页码：2489-2503
DOI：10.1194/jlr.R006338
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：Cholesterol is an essential component of both the peripheral and central nervous systems of mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol metabolism are associated with the development of various neurological conditions. In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological disease. A subform of hereditary spastic paresis (type SPG5) and Huntington's disease are neurological diseases with mutations in genes that are of importance for cholesterol metabolism. Neurodegeneration is generally associated with disturbances in cholesterol metabolism, and presence of the E4 isoform of the cholesterol transporter apolipoprotein E as well as hypercholesterolemia are important risk factors for development of Alzheimer's disease. In the present review, we discuss the links between genetic disturbances in cholesterol metabolism and the above neurological disorders.
关键词：Alzheimer's disease ; cholesterol/metabolism ; cholesterol/trafficking ; lipoproteins/assembly ; nuclear receptors ; omega oxidation