A cholesterol metabolite
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Cholestanol is a cholesterol metabolite formed by oxidation and an intermediate in the biosynthesis of chenodeoxycholic acid .1 Cholestanol (10 ?g/ml) induces apoptosis in cornea and lens epithelial cells and increases the activity of IL-1β converting enzyme (ICE) and CPP32 proteases.2 Dietary administration of 1% cholestanol to mice increases serum and liver cholestanol levels and leads to corneal opacities and gallstones and in rats it leads to cholestanol deposition in the cerebellum.3 Cholestanol levels are increased in plasma of patients with cerebrotendinous xanthomatosis (CTX), a disease characterized by a deficiency in the mitochondrial enzyme sterol 27-hydrolylase (CYP27A1) that leads to progressive neurological symptoms.4
1.Serizawa, S., Otsuka, H., Seyama, Y., et al.Studies on the biosynthesis of cholestanol in cultured cellsJ. Biochem.92(5)1547-1557(1982) 2.Inoue, K., Kubota, S., Tsuru, T., et al.Cholestanol induces apoptosis of corneal endothelial and lens epithelial cellsInvest. Ophthalmol. Vis. Sci.41(5)991-997(2000) 3.Seyama, Y.Cholestanol metabolism, molecular pathology, and nutritional implicationsJ. Med. Food6(3)217-224(2003) 4.Pilo de la Fuente, B., Sobrido, M.J., Girós, M., et al.Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosisNeurologia26(7)397-404(2011)
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