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Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, tendon xanthomas, cerebellar ataxia, dementia and juvenile cataract. CTX is caused by mutations in the sterol 27-hydroxylase gene. We examined the effect of cholestanol feeding on sterol concentrations in serum, cerebellum, liver, lens and aqueous humor of rat. Male Wistar rats were fed with standard diet, 1% cholesterol diet or 1% cholestanol diet for 15 weeks. The contents of sterol in serum, cerebellum, liver, lens and aqueous humor was analyzed by HPLC. The cholestanol concentrations were higher than those of control group and cholesterol-fed group. The cerebellum of affected and control rats were stained with HE, Sudan black B and Schultz's reagent. Interestingly, Purkinje cells in the cerebellum were stained by Sudan black B only in cholestanol-fed group, but this group was also unstained by Schultz's reagent. We next studied the effect of cholestanol on cerebellar neuronal cells prepared from 20 -21-day-old rat fetus brain. After 6-day culture the medium was replaced by three kinds of experimental medium [D-MEM/F-12 containing cholesterol (10 vg/ml) in ethanol,

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Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0009-3084)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)