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Unravelling new pathways of sterol metabolism
Current Opinion in Clinical Nutrition and Metabolic Care, Start page: 1
Swansea University Author:
William Griffiths
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DOI (Published version): 10.1097/MCO.0000000000000442
Abstract
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which ma...
Published in: | Current Opinion in Clinical Nutrition and Metabolic Care |
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ISSN: | 1363-1950 |
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2017
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URI: | https://cronfa.swan.ac.uk/Record/cronfa37645 |
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2018-01-19T16:00:13.7726352 v2 37645 2017-12-18 Unravelling new pathways of sterol metabolism 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths true false 2017-12-18 BMS Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients 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.SummaryUnusual sterol metabolites and pathways may not only provide markers of disease, but also clues towards cause and treatment. Journal Article Current Opinion in Clinical Nutrition and Metabolic Care 1 1363-1950 bile acid, cholesterol, oxysterol 31 12 2017 2017-12-31 10.1097/MCO.0000000000000442 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University RCUK, BB/N015932/1 2018-01-19T16:00:13.7726352 2017-12-18T10:02:17.3522065 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Yuqin Wang 1 William Griffiths 0000-0002-4129-6616 2 0037645-18122017100415.pdf WangCurrentOpinion2017.pdf 2017-12-18T10:04:15.2170000 Output 496905 application/pdf Version of Record true 2017-12-18T00:00:00.0000000 Released under a Creative Commons Attribution License 4.0 (CC-BY). true eng |
title |
Unravelling new pathways of sterol metabolism |
spellingShingle |
Unravelling new pathways of sterol metabolism William Griffiths |
title_short |
Unravelling new pathways of sterol metabolism |
title_full |
Unravelling new pathways of sterol metabolism |
title_fullStr |
Unravelling new pathways of sterol metabolism |
title_full_unstemmed |
Unravelling new pathways of sterol metabolism |
title_sort |
Unravelling new pathways of sterol metabolism |
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3316b1d1b524be1831790933eed1c26e |
author_id_fullname_str_mv |
3316b1d1b524be1831790933eed1c26e_***_William Griffiths |
author |
William Griffiths |
author2 |
Yuqin Wang William Griffiths |
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Journal article |
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Current Opinion in Clinical Nutrition and Metabolic Care |
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2017 |
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Swansea University |
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1363-1950 |
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10.1097/MCO.0000000000000442 |
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Faculty of Medicine, Health and Life Sciences |
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Faculty of Medicine, Health and Life Sciences |
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Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine |
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description |
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients 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.SummaryUnusual sterol metabolites and pathways may not only provide markers of disease, but also clues towards cause and treatment. |
published_date |
2017-12-31T03:47:26Z |
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1763752276726382592 |
score |
11.021648 |