Document Detail


Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.
MedLine Citation:
PMID:  23375471     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and Familial Mediterranean Fever (FMF).
METHODS: EFAs were determined in sera derived from an archival, cross-sectional group of HIDS/FMF patients, stratified for presence and absence of fever. Control populations included healthy afebrile adults, and individuals with non-periodic fever (septic shock). EFAs were quantified using isotope dilution gas chromatography-mass spectrometry and data analyzed employing a Kruskal-Wallis non-parametric ANOVA with Dunn's post-hoc test.
RESULTS: Sera samples derived from HIDS patients showed significantly decreased C20, C26, phytanic and pristanic acids during febrile crises that normalized in the afebrile state, and a significantly increased afebrile C22_4ω6 level that normalized with fever. Samples derived from FMF patients revealed increased ω-oxidized LCFAs as compared to controls, and the trend was for these same species to be increased in comparison to febrile, but not afebrile, HIDS patients. Individuals with non-periodic fever demonstrated global decreases in C10-C24 fatty acids, both saturated and unsaturated, accompanied by an elevated triene/tetraene ratio.
CONCLUSIONS: Our results suggest that different mechanisms are active in hereditary periodic fever syndromes that appear unrelated to fever, including depletion of very long chain fatty acids (VLCFAs) in febrile HIDS patients and increased ω-oxidized LCFAs in patients with FMF. These findings underscore new roles for EFAs in the potential production of inflammatory species in patients with hereditary periodic fever.
Authors:
Anna Simon; Joost P H Drenth; Dietrich Matern; Eric S Goetzman; Elizabeth J Hager; K Michael Gibson
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2013-01-15
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  108     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-19     Completed Date:  2013-07-30     Revised Date:  2014-03-06    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  166-71     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Analysis of Variance
Case-Control Studies
Cross-Sectional Studies
Familial Mediterranean Fever / blood*,  genetics,  physiopathology
Fatty Acids, Essential / blood*,  chemistry
Female
Gas Chromatography-Mass Spectrometry
Humans
Immunoglobulin D / blood
Inheritance Patterns
Male
Mevalonate Kinase Deficiency / blood*,  genetics,  physiopathology
Middle Aged
Periodicity*
Phosphotransferases (Alcohol Group Acceptor) / genetics
Grant Support
ID/Acronym/Agency:
1U54HD061939/HD/NICHD NIH HHS; HD 57864/HD/NICHD NIH HHS; R01 DK090242/DK/NIDDK NIH HHS; R03 HD057864/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Fatty Acids, Essential; 0/Immunoglobulin D; EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor); EC 2.7.1.36/mevalonate kinase
Comments/Corrections

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