Unknown

Dataset Information

0

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.


ABSTRACT: Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (?7-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, 3?,5?-dihydroxycholest-7-en-6-one and 7?,8?-epoxycholesterol. None of these metabolites are detected in control plasma at quantifiable levels (0.5ng/mL).

SUBMITTER: Griffiths WJ 

PROVIDER: S-EPMC5018427 | BioStudies | 2017-01-01

REPOSITORIES: biostudies

Similar Datasets

| S-EPMC3874268 | BioStudies
1000-01-01 | S-EPMC3173002 | BioStudies
2013-01-01 | S-EPMC3520531 | BioStudies
1000-01-01 | S-EPMC3090243 | BioStudies
1998-01-01 | S-EPMC1377256 | BioStudies
2013-01-01 | S-EPMC3674764 | BioStudies
2021-01-01 | S-EPMC7816163 | BioStudies
1000-01-01 | S-EPMC3605989 | BioStudies
2019-01-01 | S-EPMC6477890 | BioStudies
1000-01-01 | S-EPMC2952566 | BioStudies