| Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. | |
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MedLine Citation:
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PMID: 20804844 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. Investigations of such mutants have relied on tissue and blood levels of the cholesterol precursor 7-dehydrocholesterol (7DHC) and its 8-dehydro isomer. In this investigation by gas chromatography/mass spectrometry (GC/MS) we have identified and quantified cholesterol and its precursors (7DHC, desmosterol, lathosterol, lanosterol and cholest-7,24-dien-3β-ol) in mouse hair. The components were characterized and their concentrations were compared to those found in mouse skin and serum. Hair appeared unique in that desmosterol was a major sterol component, almost matching in concentration cholesterol itself. In DHCR7 deficient mice, dehydrodesmosterol (DHD) was the dominant hair Δ(7) sterol. Mutant mouse hair had much higher concentrations of 7-dehydrosterols relative to cholesterol than did serum or tissue at all ages studied. The 7DHC/C ratio in hair was typically about sevenfold the value in serum or skin and the DHD/D ratio was 100× that of the serum 7DHC/C ratio. Mutant mice compensate for their DHCR7 deficiency with maturity, and the tissue and blood 7DHC/C become close to normal. That hair retains high relative concentrations of the dehydro precursors suggests that the apparent up-regulation of Dhcr7 seen in liver is slower to develop at the site of hair cholesterol synthesis. |
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Authors:
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Montserrat Serra; Xavier Matabosch; Lee Ying; Gordon Watson; Cedric Shackleton |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-09-06 |
Journal Detail:
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Title: The Journal of steroid biochemistry and molecular biology Volume: 122 ISSN: 1879-1220 ISO Abbreviation: J. Steroid Biochem. Mol. Biol. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-26 Completed Date: 2010-11-23 Revised Date: 2011-11-01 |
Medline Journal Info:
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Nlm Unique ID: 9015483 Medline TA: J Steroid Biochem Mol Biol Country: England |
Other Details:
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Languages: eng Pagination: 318-25 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Children's Hospital Oakland Research Institute, Oakland, CA 94609, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cholesterol / metabolism Dehydrocholesterols / metabolism Desmosterol / metabolism Disease Models, Animal Gas Chromatography-Mass Spectrometry Hair / chemistry* Lanosterol / metabolism Mice Mutation Oxidoreductases Acting on CH-CH Group Donors / deficiency* Skin / chemistry* Smith-Lemli-Opitz Syndrome / genetics Sterols / metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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DLAC.RCHX13057//Wellcome Trust; DLAC.RRAK11881//Medical Research Council; R01 HD053036-05/HD/NICHD NIH HHS; R01HD053036/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Dehydrocholesterols; 0/Sterols; 313-04-2/Desmosterol; 434-16-2/7-dehydrocholesterol; 57-88-5/Cholesterol; 651-54-7/cholesta-7,24-dien-3-ol; 79-63-0/Lanosterol; 80-99-9/lathosterol; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC 1.3.1.21/7-dehydrocholesterol reductase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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