24S-hydroxycholesterol and cholesterol-24S-hydroxylase (CYP46A1) in the retina: from cholesterol homeostasis to pathophysiology of glaucoma
作者： Cynthia Fourgeux , Alain Bron , Niyazi Acar , Catherine Creuzot-Garcher , Lionel Bretillon
DOI: 10.1016/J.CHEMPHYSLIP.2011.04.006
关键词: Homeostasis 、 Retina 、 Cholesterol 24-hydroxylase 、 Retinal ganglion 、 Glaucoma 、 Internal medicine 、 Endocrinology 、 Neuron 、 Biology 、 Pathophysiology 、 Cholesterol
摘要: Free cholesterol is the predominant form of in neural retina. The vertebrate retina exhibits its own capacity to synthesize and meets demand also by taking it from circulation. Defects synthesis trafficking has detrimental consequences on structure function, highlighting crucial importance maintaining homeostasis Our purpose was give a review functioning retina, role metabolism therein, with special emphasis cholesterol-24S-hydroxylase (CYP46A1). Similar brain, expresses (CYP46A1) enriched metabolic product, 24S-hydroxycholesterol. We recently published that one single nucleotide polymorphism CYP46A1 gene, designated as rs754203, risk factor for glaucoma. Glaucoma second leading cause blindness worldwide, affecting more than 60 million people. characterized loss retinal ganglion cells, which show high expression. These data suggest potential involvement 24S-hydroxycholesterol pathophysiology
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