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https://hdl.handle.net/2440/68758
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Type: | Journal article |
Title: | Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency |
Other Titles: | Fatty acid desaturase 2 promoter mutation is not responsible for Delta6-desaturase deficiency |
Author: | Gregory, M. Lester, S. Cook-Johnson, R. Gibson, R. Proudman, S. Cleland, L. James, M. |
Citation: | European Journal of Human Genetics, 2011; 19(11):1202-1204 |
Publisher: | Nature Publishing Group |
Issue Date: | 2011 |
ISSN: | 1018-4813 1476-5438 |
Statement of Responsibility: | Melissa K Gregory, Susan E Lester, Rebecca J Cook-Johnson, Robert A Gibson, Susanna M Proudman, Leslie G Cleland and Michael J James |
Abstract: | 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. |
Keywords: | FADS2 promoter polymorphism polyunsaturated fatty acids Δ6-desaturase |
Rights: | © 2011 Macmillan Publishers Limited. All rights reserved. |
DOI: | 10.1038/ejhg.2011.104 |
Grant ID: | ARC |
Published version: | http://dx.doi.org/10.1038/ejhg.2011.104 |
Appears in Collections: | Aurora harvest 5 Medicine publications |
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