Document Detail

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
MedLine Citation:
PMID:  18322283     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients with APS-1, the autoantigen responsible for hypoparathyroidism, a hallmark of APS-1 and its most common autoimmune endocrinopathy, has not yet been identified. METHODS: We performed immunoscreening of a human parathyroid complementary DNA library, using serum samples from patients with APS-1 and hypoparathyroidism, to identify patients with reactivity to the NACHT leucine-rich-repeat protein 5 (NALP5). Subsequently, serum samples from 87 patients with APS-1 and 293 controls, including patients with other autoimmune disorders, were used to determine the frequency and specificity of autoantibodies against NALP5. In addition, the expression of NALP5 was investigated in various tissues. RESULTS: NALP5-specific autoantibodies were detected in 49% of the patients with APS-1 and hypoparathyroidism but were absent in all patients with APS-1 but without hypoparathyroidism, in all patients with other autoimmune endocrine disorders, and in all healthy controls. NALP5 was predominantly expressed in the cytoplasm of parathyroid chief cells. CONCLUSIONS: NALP5 appears to be a tissue-specific autoantigen involved in hypoparathyroidism in patients with APS-1. Autoantibodies against NALP5 appear to be highly specific and may be diagnostic for this prominent component of APS-1.
Mohammad Alimohammadi; Peyman Björklund; Asa Hallgren; Nora Pöntynen; Gabor Szinnai; Noriko Shikama; Marcel P Keller; Olov Ekwall; Sarah A Kinkel; Eystein S Husebye; Jan Gustafsson; Fredrik Rorsman; Leena Peltonen; Corrado Betterle; Jaakko Perheentupa; Göran Akerström; Gunnar Westin; Hamish S Scott; Georg A Holländer; Olle Kämpe
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The New England journal of medicine     Volume:  358     ISSN:  1533-4406     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-03-06     Completed Date:  2008-03-12     Revised Date:  2008-11-12    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1018-28     Citation Subset:  AIM; IM    
Copyright Information:
Copyright 2008 Massachusetts Medical Society.
University Hospital, Uppsala University, Uppsala, Sweden.
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MeSH Terms
Autoantibodies / analysis,  blood*
Autoantigens / genetics,  immunology*
Biological Markers / analysis,  blood
DNA, Complementary / analysis
Gene Library
Hypoparathyroidism / diagnosis*,  etiology,  immunology
Parathyroid Glands / chemistry,  immunology*
Polyendocrinopathies, Autoimmune / complications,  immunology*
RNA, Messenger / analysis
Reg. No./Substance:
0/Autoantibodies; 0/Autoantigens; 0/Biological Markers; 0/DNA, Complementary; 0/NALP5 protein, human; 0/RNA, Messenger
Comment In:
Nat Clin Pract Endocrinol Metab. 2008 Oct;4(10):544-5   [PMID:  18711407 ]

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