eprintid: 1477770
rev_number: 50
eprint_status: archive
userid: 608
dir: disk0/01/47/77/70
datestamp: 2016-04-07 15:57:32
lastmod: 2021-12-13 02:51:45
status_changed: 2017-06-22 13:39:52
type: article
metadata_visibility: show
creators_name: Griffiths, WJ
creators_name: Abdel-Khalik, J
creators_name: Crick, PJ
creators_name: Ogundare, M
creators_name: Shackleton, CH
creators_name: Tuschl, K
creators_name: Kwok, MK
creators_name: Bigger, BW
creators_name: Morris, AA
creators_name: Honda, A
creators_name: Xu, L
creators_name: Porter, NA
creators_name: Bjorkhem, I
creators_name: Clayton, PT
creators_name: Wang, Y
title: Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
ispublished: pub
divisions: UCL
divisions: B02
divisions: D13
divisions: G23
keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Endocrinology & Metabolism, Oxysterol, Sterol, 7-Dehydrocholesterol, 8-Dehydrocholesterol, 7-Dehydrocholesterol reductase, Liquid chromatography-mass spectrometry, CHROMATOGRAPHY-MASS-SPECTROMETRY, 7-DEHYDROCHOLESTEROL-DERIVED OXYSTEROLS, CHOLESTEROL-BIOSYNTHESIS, OXIDATION, LIVER, 7-KETOCHOLESTEROL, METABOLISM, DIAGNOSIS, MODEL, 7-BETA-HYDROXYCHOLESTEROL
note: © 2016 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
abstract: Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in
the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (D7
-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, 3b,5a-dihydroxycholest-7-en-6-one and 7a,8aepoxycholesterol.
None of these metabolites are detected in control plasma at quantifiable levels (0.5 ng/
mL).
date: 2017-05
date_type: published
publisher: PERGAMON-ELSEVIER SCIENCE LTD
official_url: http://doi.org/10.1016/j.jsbmb.2016.03.018
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
article_type_text: Article
verified: verified_manual
elements_id: 1120547
doi: 10.1016/j.jsbmb.2016.03.018
lyricists_name: Clayton, Peter
lyricists_name: Tuschl, Karin
lyricists_id: PTCLA52
lyricists_id: KTUSC04
actors_name: Clayton, Peter
actors_name: Laslett, David
actors_id: PTCLA52
actors_id: DLASL34
actors_role: owner
actors_role: impersonator
full_text_status: public
publication: The Journal of Steroid Biochemistry and Molecular Biology
volume: 169
pagerange: 77-87
pages: 11
issn: 0960-0760
citation:        Griffiths, WJ;    Abdel-Khalik, J;    Crick, PJ;    Ogundare, M;    Shackleton, CH;    Tuschl, K;    Kwok, MK;                                 ... Wang, Y; + view all <#>        Griffiths, WJ;  Abdel-Khalik, J;  Crick, PJ;  Ogundare, M;  Shackleton, CH;  Tuschl, K;  Kwok, MK;  Bigger, BW;  Morris, AA;  Honda, A;  Xu, L;  Porter, NA;  Bjorkhem, I;  Clayton, PT;  Wang, Y;   - view fewer <#>    (2017)    Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.                   The Journal of Steroid Biochemistry and Molecular Biology , 169    pp. 77-87.    10.1016/j.jsbmb.2016.03.018 <https://doi.org/10.1016/j.jsbmb.2016.03.018>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1477770/1/Clayton_1-s2.0-S0960076016300644-main.pdf