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Sterols in blood of normal and Smith-Lemli-Opitz subjects
- Source :
- Journal of Lipid Research, Vol 42, Iss 5, Pp 799-812 (2001)
- Publication Year :
- 2001
- Publisher :
- Elsevier, 2001.
-
Abstract
- Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol. Using rigorous analytical methods in conjunction with a large collection of authentic standards, we unequivocally identified numerous noncholesterol sterols in 6 normal and 17 SLOS blood samples. Plasma or erythrocytes were saponified under oxygen-free conditions, followed by multiple chromatographic separations. Individual sterols were identified and quantitated by high performance liquid chromatography (HPLC), Ag+-HPLC, gas chromatography (GC), GC-mass spectrometry, and nuclear magnetic resonance. As a percentage of total sterol content, the major C27 sterols observed in the SLOS blood samples were cholesterol (12–98%), 7-dehydrocholesterol (0.4–44%), 8-dehydrocholesterol (0.5–22%), and cholesta-5,7,9(11)-trien-3β-ol (0.02–5%), whereas the normal blood samples contained
Details
- Language :
- English
- ISSN :
- 00222275
- Volume :
- 42
- Issue :
- 5
- Database :
- Directory of Open Access Journals
- Journal :
- Journal of Lipid Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.7f841e5d40b7466db2e839c565d2650b
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/S0022-2275(20)31643-6