| Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. | |
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MedLine Citation:
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PMID: 17971613 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). FALDH is an enzyme component of fatty alcohol:NAD oxidoreductase (FAO), which is necessary for fatty alcohol metabolism. To better understand the biochemical basis for the cutaneous symptoms in this disease, we investigated lipid metabolism in cultured keratinocytes from SLS patients. Enzyme activities of FALDH and FAO in SLS cells were <10% of normal. SLS keratinocytes accumulated 45-fold more fatty alcohol (hexadecanol, octadecanol, and octadecenol) than normal, whereas wax esters and 1-O-alkyl-2,3-diacylglycerols were increased by 5.6-fold and 7.5-fold, respectively. SLS keratinocytes showed a reduced incorporation of radioactive octadecanol into fatty acid (24% of normal) and triglyceride (13% of normal), but incorporation into wax esters and 1-O-alkyl-2,3-diacylglycerol was increased by 2.5-fold and 2.8-fold, respectively. Our results indicate that FALDH deficiency in SLS keratinocytes causes the accumulation and diversion of fatty alcohol into alternative biosynthetic pathways. The striking lipid abnormalities in cultured SLS keratinocytes are distinct from those seen in fibroblasts and may be related to the stratum corneum dysfunction and ichthyosis in SLS. |
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Authors:
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William B Rizzo; Debra A Craft; Tara Somer; Gael Carney; Juliana Trafrova; Marcia Simon |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural Date: 2007-10-30 |
Journal Detail:
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Title: Journal of lipid research Volume: 49 ISSN: 0022-2275 ISO Abbreviation: J. Lipid Res. Publication Date: 2008 Feb |
Date Detail:
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Created Date: 2008-01-17 Completed Date: 2008-04-22 Revised Date: 2011-07-26 |
Medline Journal Info:
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Nlm Unique ID: 0376606 Medline TA: J Lipid Res Country: United States |
Other Details:
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Languages: eng Pagination: 410-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA. wrizzo@unmc.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3T3 Cells Aldehyde Oxidoreductases / deficiency, genetics Animals Cells, Cultured Cholesterol Esters / metabolism Diglycerides / analysis, chemistry, metabolism Fatty Alcohols / chemistry, metabolism* Gas Chromatography-Mass Spectrometry Humans Keratinocytes / enzymology, metabolism*, pathology Mice Sjogren-Larsson Syndrome / enzymology, genetics, metabolism*, pathology* Waxes / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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AR 44552/AR/NIAMS NIH HHS; P20 RR 016469/RR/NCRR NIH HHS; R01 AR044552-12/AR/NIAMS NIH HHS; R01 AR044552-13/AR/NIAMS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Cholesterol Esters; 0/Diglycerides; 0/Fatty Alcohols; 0/Waxes; EC 1.2.-/Aldehyde Oxidoreductases; EC 1.2.1.48/long-chain-aldehyde dehydrogenase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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