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• W2775337332 abstract "Purpose of review To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. Recent findings Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals. Four inborn errors of metabolism, Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis and Niemann Pick disease types B (NPB) and C (NPC) result from mutations in different genes but can generate elevated levels of the same sterol metabolite, 7-oxocholesterol, in plasma. How this molecule is metabolized further is of great interest as its metabolites may have an important role in embryonic development. A second metabolite, abundant in NPC and NPB diseases, cholestane-3β,5α,6β-triol (3β,5α,6β-triol), has recently been shown to be metabolized to the corresponding bile acid, 3β,5α,6β-trihydroxycholanoic acid, providing a diagnostic marker in plasma. The origin of cholestane-3β,5α,6β-triol is likely to be 3β-hydroxycholestan-5,6-epoxide, which can alternatively be metabolized to the tumour suppressor dendrogenin A (DDA). In breast tumours, DDA levels are found to be decreased compared with normal tissues linking sterol metabolism to cancer. Summary Unusual sterol metabolites and pathways may not only provide markers of disease, but also clues towards cause and treatment." @default.
• W2775337332 created "2017-12-22" @default.
• W2775337332 creator A5007978186 @default.
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• W2775337332 date "2018-03-01" @default.
• W2775337332 modified "2023-09-27" @default.
• W2775337332 title "Unravelling new pathways of sterol metabolism" @default.
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• W2775337332 doi "https://doi.org/10.1097/mco.0000000000000442" @default.
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