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.

Björkhem, I., Leoni, V., Meaney, S. (2010). Genetic connections between neurological disorders and cholesterol metabolism. JOURNAL OF LIPID RESEARCH, 51(9), 2489-2503 [10.1194/jlr.R006338].

Genetic connections between neurological disorders and cholesterol metabolism

Leoni V;
2010

Abstract

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.
Articolo in rivista - Articolo scientifico
oxysterols; mass spectrometry; metabolomic
English
2010
51
9
2489
2503
reserved
Björkhem, I., Leoni, V., Meaney, S. (2010). Genetic connections between neurological disorders and cholesterol metabolism. JOURNAL OF LIPID RESEARCH, 51(9), 2489-2503 [10.1194/jlr.R006338].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/221564
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