TY  - JOUR
VL  - 169
SP  - 77
N1  - © 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/).
UR  - http://doi.org/10.1016/j.jsbmb.2016.03.018
SN  - 0960-0760
JF  - The Journal of Steroid Biochemistry and Molecular Biology
A1  - Griffiths, WJ
A1  - Abdel-Khalik, J
A1  - Crick, PJ
A1  - Ogundare, M
A1  - Shackleton, CH
A1  - Tuschl, K
A1  - Kwok, MK
A1  - Bigger, BW
A1  - Morris, AA
A1  - Honda, A
A1  - Xu, L
A1  - Porter, NA
A1  - Bjorkhem, I
A1  - Clayton, PT
A1  - Wang, Y
TI  - Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients
AV  - public
Y1  - 2017/05//
EP  - 87
N2  - 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).
ID  - discovery1477770
PB  - PERGAMON-ELSEVIER SCIENCE LTD
KW  - Science & Technology
KW  -  Life Sciences & Biomedicine
KW  -  Biochemistry & Molecular Biology
KW  -  Endocrinology & Metabolism
KW  -  Oxysterol
KW  -  Sterol
KW  -  7-Dehydrocholesterol
KW  -  8-Dehydrocholesterol
KW  -  7-Dehydrocholesterol reductase
KW  -  Liquid chromatography-mass spectrometry
KW  -  CHROMATOGRAPHY-MASS-SPECTROMETRY
KW  -  7-DEHYDROCHOLESTEROL-DERIVED OXYSTEROLS
KW  -  CHOLESTEROL-BIOSYNTHESIS
KW  -  OXIDATION
KW  -  LIVER
KW  -  7-KETOCHOLESTEROL
KW  -  METABOLISM
KW  -  DIAGNOSIS
KW  -  MODEL
KW  -  7-BETA-HYDROXYCHOLESTEROL
ER  -