| Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency. | |
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MedLine Citation:
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PMID: 21629299 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Dietary essential polyunsaturated fatty acids (PUFAs) require fatty acid desaturases (FADS) for conversion to long-chain PUFAs (LCPUFAs), which are critical for many aspects of human health. A Δ6-desaturase deficiency in a single patient was attributed to an insertion mutation in the FADS2 promoter. Later population studies have shown this thymidine nucleotide (T) insertion to be a common polymorphism (rs3834458). We examined correlations between rs3834458 variants and fatty acid evidence of FADS2 activity in a cohort of rheumatoid arthritis patients selected for low or nil consumption of n-3 LCPUFA as fish or fish oil. The presence of the T allele was associated with higher FADS2 activity, as indicated by higher conversion of plasma n-3 PUFA to LCPUFA. However, the T-insertion/deletion polymorphism did not affect FADS2 promoter activity in luciferase reporter assays in HepG2 or NIH/3T3 cells. Our results indicate that the polymorphism rs3834458 does not appear to directly affect FADS2 promoter activity and is not responsible for a previously reported Δ6-desaturase deficiency.European Journal of Human Genetics advance online publication, 1 June 2011; doi:10.1038/ejhg.2011.104. |
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Authors:
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Melissa K Gregory; Susan E Lester; Rebecca J Cook-Johnson; Robert A Gibson; Susanna M Proudman; Leslie G Cleland; Michael J James |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-01 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-1 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Rheumatology Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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