Journal article 1084 views 158 downloads
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
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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
The Journal of Steroid Biochemistry and Molecular Biology
Swansea University Authors:
William Griffiths , Yuqin Wang
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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...
| Published in: | The Journal of Steroid Biochemistry and Molecular Biology |
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| Published: |
2016
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa26789 |
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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 (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). |
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| College: |
Faculty of Medicine, Health and Life Sciences |