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Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients

William Griffiths Orcid Logo, Jonas Abdel-Khalik, Peter J. Crick, Michael Ogundare, Cedric H. Shackleton, Karin Tuschl, Mei Kwun Kwok, Brian W. Bigger, Andrew A. Morris, Akira Honda, Libin Xu, Ned A. Porter, Ingemar Björkhem, Peter T. Clayton, Yuqin Wang Orcid Logo

The Journal of Steroid Biochemistry and Molecular Biology

Swansea University Authors: William Griffiths Orcid Logo, Yuqin Wang Orcid Logo

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DOI (Published version): 10.1016/j.jsbmb.2016.03.018

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues...

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Published in: The Journal of Steroid Biochemistry and Molecular Biology
Published: 2016
URI: https://cronfa.swan.ac.uk/Record/cronfa26789
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spelling 2019-09-24T16:05:34.3645868 v2 26789 2016-03-21 Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths true false c92729b58622f9fdf6a0e7d8f4ce5081 0000-0002-3063-3066 Yuqin Wang Yuqin Wang true false 2016-03-21 BMS Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be multiple mechanisms responsible for SLOS pathology. In an effort to learn more of the aetiology of SLOS we have analysed plasma from SLOS patients to search for metabolites derived from 7-DHC which may be responsible for some of the pathology. We have identified a novel hydroxy-8-dehydrocholesterol, which is either 24- or 25-hydroxy-8-dehydrocholesterol and also the known metabolites 26-hydroxy-8-dehydrocholesterol, 4-hydroxy-7-dehydrocholesterol, 3β,5α-dihydroxycholest-7-en-6-one and 7α,8α-epoxycholesterol. None of these metabolites are detected in control plasma at quantifiable levels (0.5 ng/mL). Journal Article The Journal of Steroid Biochemistry and Molecular Biology 31 12 2016 2016-12-31 10.1016/j.jsbmb.2016.03.018 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University RCUK, BBSCRC, BB/I001735/1 2019-09-24T16:05:34.3645868 2016-03-21T08:51:44.4355709 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine William Griffiths 0000-0002-4129-6616 1 Jonas Abdel-Khalik 2 Peter J. Crick 3 Michael Ogundare 4 Cedric H. Shackleton 5 Karin Tuschl 6 Mei Kwun Kwok 7 Brian W. Bigger 8 Andrew A. Morris 9 Akira Honda 10 Libin Xu 11 Ned A. Porter 12 Ingemar Björkhem 13 Peter T. Clayton 14 Yuqin Wang 0000-0002-3063-3066 15 0026789-21032016085527.pdf Griffiths_SBMB_2015.pdf 2016-03-21T08:55:27.6330000 Output 2704871 application/pdf Version of Record true 2016-03-21T00:00:00.0000000 This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). true
title Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
spellingShingle Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
William Griffiths
Yuqin Wang
title_short Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
title_full Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
title_fullStr Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
title_full_unstemmed Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
title_sort Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
author_id_str_mv 3316b1d1b524be1831790933eed1c26e
c92729b58622f9fdf6a0e7d8f4ce5081
author_id_fullname_str_mv 3316b1d1b524be1831790933eed1c26e_***_William Griffiths
c92729b58622f9fdf6a0e7d8f4ce5081_***_Yuqin Wang
author William Griffiths
Yuqin Wang
author2 William Griffiths
Jonas Abdel-Khalik
Peter J. Crick
Michael Ogundare
Cedric H. Shackleton
Karin Tuschl
Mei Kwun Kwok
Brian W. Bigger
Andrew A. Morris
Akira Honda
Libin Xu
Ned A. Porter
Ingemar Björkhem
Peter T. Clayton
Yuqin Wang
format Journal article
container_title The Journal of Steroid Biochemistry and Molecular Biology
publishDate 2016
institution Swansea University
doi_str_mv 10.1016/j.jsbmb.2016.03.018
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 1
active_str 0
description Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be multiple mechanisms responsible for SLOS pathology. In an effort to learn more of the aetiology of SLOS we have analysed plasma from SLOS patients to search for metabolites derived from 7-DHC which may be responsible for some of the pathology. We have identified a novel hydroxy-8-dehydrocholesterol, which is either 24- or 25-hydroxy-8-dehydrocholesterol and also the known metabolites 26-hydroxy-8-dehydrocholesterol, 4-hydroxy-7-dehydrocholesterol, 3β,5α-dihydroxycholest-7-en-6-one and 7α,8α-epoxycholesterol. None of these metabolites are detected in control plasma at quantifiable levels (0.5 ng/mL).
published_date 2016-12-31T03:32:15Z
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score 11.037603

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