Abstract
Objectives: Niemann Pick Disease Type C (NP-C) is a rare neurodegenerative condition affecting infants, children and adults. The majority of patients have NPC1 mutations, resulting and cholesterol esterification and trafficking defects. 95% of brain cholesterol is synthesized in situ and this is converted to oxysterols by direct oxidation or by action of oxysterol biosynthetic enzymes. 24-hydroxycholesterol is the main oxysterol that is transported out of the brain and blood levels may reflect neurodegeneration. The present study aimed to elucidate the serial levels of cholesterol and cholesterol oxidation products in the brains of NP-C mice and sera of NP-C patients.
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