Griffiths, WJ;
Abdel-Khalik, J;
Crick, PJ;
Ogundare, M;
Shackleton, CH;
Tuschl, K;
Kwok, MK;
... Wang, Y; + view all
(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.
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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).
| Type: | Article |
|---|---|
| Title: | Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jsbmb.2016.03.018 |
| Publisher version: | http://doi.org/10.1016/j.jsbmb.2016.03.018 |
| Language: | English |
| Additional information: | © 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/). |
| 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 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1477770 |
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