Document Detail


DcR3 Mutations in Patients with Juvenile-onset Systemic Lupus Erythematosus Lead to Enhanced Lymphocyte Proliferation.
MedLine Citation:
PMID:  23729807     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: Previous studies suggested a role for the death decoy receptor 3 (DcR3) in the pathogenesis of adult systemic lupus erythematosus (SLE). We investigated the role of DcR3 in juvenile-onset SLE, to identify polymorphisms that might alter the function of this protein. METHODS: DcR3 was measured in the serum of 61 patients with juvenile SLE. The coding region of the DcR3 gene was sequenced in 100 juvenile and 103 adult patients with SLE, together with 500 healthy controls. RESULTS: DcR3 was elevated in the serum of juvenile patients with active SLE disease (440.8 ± 169.1 pg/ml), compared to patients with inactive disease (122.6 ± 28.05 pg/ml; p = 0.0014) and controls (69.27 ± 20.23 pg/ml; p = 0.0009). DNA sequencing identified 2 novel missense mutations: c.C167T (p.T56I) in an adult SLE patient and c.C364T (p.H122Y) in a juvenile patient. Recombinant proteins containing these mutations exhibited altered binding kinetics to FasL and they significantly increased lymphocyte proliferation, compared to the wild-type protein (p < 0.05). The adult patient with SLE carrying the p.T56I mutation had significantly increased lymphocyte proliferation compared to 3 SLE controls matched for age, sex, and disease severity. CONCLUSION: DcR3 may play an etiologic role in SLE through either elevated serum levels of wild-type DcR3 or normal levels of gain-of-function DcR3 proteins that increase lymphocyte proliferation.
Authors:
Chayanin Chokdeemeeboon; Pramuk Ammarinthnukrowh; Siraprapa Tongkobpetch; Chalurmpon Srichomtong; Tawatchai Deekajorndech; Pornpimol Rianthavorn; Pornchai Kingwattanakul; Yingyos Avihingsanon; Helen L Wright; Piyaporn Akkahat; Voravee P Hoven; Wanwimon Mekboonsonglarp; Steven W Edwards; Nattiya Hirankarn; Kanya Suphapeetiporn; Vorasuk Shotelersuk
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-6-1
Journal Detail:
Title:  The Journal of rheumatology     Volume:  -     ISSN:  0315-162X     ISO Abbreviation:  J. Rheumatol.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-6-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7501984     Medline TA:  J Rheumatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
From the Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok; Clinical Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok; Department of Pediatrics, Department of Medicine, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Institute of Integrative Biology, University of Liverpool, Liverpool, UK; Program in Petrochemistry, Organic Synthesis Research Unit, Department of Chemistry, Faculty of Science, Chulalongkorn University, Bangkok; and the Scientific and Technological Research Equipment Center, Chulalongkorn University, Bangkok, Thailand.
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