| Title: |
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients |
| Authors: |
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 |
| Source: |
The Journal of Steroid Biochemistry and Molecular Biology , 169 pp. 77-87. (2017) |
| Publisher Information: |
PERGAMON-ELSEVIER SCIENCE LTD |
| Publication Year: |
2017 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
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 |
| Description: |
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). |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/1477770/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/1477770/1/Clayton_1-s2.0-S0960076016300644-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1477770/ |
| Rights: |
open |
| Accession Number: |
edsbas.F24CF393 |
| Database: |
BASE |