Document Detail

Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
MedLine Citation:
PMID:  16476896     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine whether adipose and red blood cell membrane lipids, particularly long-chain polyunsaturated fatty acids such as docosahexaenoic acid and eicosapentaenoic acid, are significantly correlated with phenotype in a family with autosomal dominant Stargardt macular dystrophy (gene locus STGD3). A mutation in the ELOVL4 gene is responsible for the macular dystrophy in this family, and its disease-causing mechanism may be its possible involvement in fatty acid elongation in the retina. METHODS: The subjects in this study included 18 adult family members known to have a 2-base pair deletion in the ELOVL4 gene. Control subjects included 26 family members without the mutation. Each subject received a complete eye examination including fundus photographs, the results of which were used to grade the severity of macular dystrophy on a 3-tier scale. Red blood cell membrane and adipose tissue lipids were analyzed as an indication of short-term and long-term dietary fatty acid intake. RESULTS: When adipose lipids were analyzed, there was a significant inverse relationship between phenotypic severity and the level of eicosapentaenoic acid (r = -0.54; P = .04). When red blood cell lipids were analyzed, there were significant inverse relationships between phenotypic severity and levels of eicosapentaenoic acid (r = -0.55; P = .02) and docosahexaenoic acid (r = -0.48; P = .04). CONCLUSIONS: These results indicate that the phenotypic diversity in this family may be related to differences in dietary fat intake as reflected by adipose and red blood cell lipids. CLINICAL RELEVANCE: This study demonstrates that dietary factors can influence the severity of an inherited human macular dystrophy.
Amy F Hubbard; E Wayne Askew; Nanda Singh; Mark Leppert; Paul S Bernstein
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of ophthalmology     Volume:  124     ISSN:  0003-9950     ISO Abbreviation:  Arch. Ophthalmol.     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-02-14     Completed Date:  2006-02-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7706534     Medline TA:  Arch Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  257-63     Citation Subset:  AIM; IM    
Department of Foods and Nutrition, University of Utah, Salt Lake City, USA.
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MeSH Terms
Adipose Tissue / metabolism*
Diet Surveys
Dietary Fats, Unsaturated / administration & dosage
Docosahexaenoic Acids / metabolism*
Eicosapentaenoic Acid / metabolism*
Erythrocyte Membrane / metabolism*
Eye Proteins / genetics*
Gas Chromatography-Mass Spectrometry
Genes, Dominant
Macular Degeneration / genetics*,  metabolism*
Membrane Proteins / genetics*
Middle Aged
Severity of Illness Index
Reg. No./Substance:
0/Dietary Fats, Unsaturated; 0/ELOVL4 protein, human; 0/Eye Proteins; 0/Membrane Proteins; 1553-41-9/Eicosapentaenoic Acid; 25167-62-8/Docosahexaenoic Acids

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