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Abstract

Objectives:

Juvenile dermatomyositis (JDM), adult dermatomyositis, and polymyositis (PM) are idiopathic inflammatory myopathies (IIMs) characterized by muscle infiltration and specific muscle fiber alterations. They are thought to have an autoimmune etiology, but triggering factors, and how immunologic attack induces muscle weakness, remain unknown. Recent evidence suggests a key role for type I interferon (IFN)-mediated innate immunity in dermatomyositis, which we explored in JDM, dermatomyositis, and PM by gene expression profiling, and other methods.

Methods:

Ten IIM and 5 control muscle biopsies were assessed for expression of approximately 16,000 genes by microarray; 37 additional IIM, 10 dystrophinopathic, and 14 nonmyopathic control muscles were studied for type I IFN-dependent genes, and Toll-like receptor (TLR) expression by immunochemistry and PCR.

Results:

Type I IFN-dependent transcripts were significantly upregulated in IIM muscles compared to controls; in JDM the most expressed were ISG15 (408-fold), IFIT3 (261-fold), MX1 (99-fold), and IRF7 (37-fold). IFN-β (but not IFN-α) transcripts were upregulated in PM as well as dermatomyositis/JDM. TLR3 was upregulated particularly in JDM, being localized on vascular endothelial cells, muscle infiltrating cells (mainly myeloid dendritic cells), and regenerating myofibers; TLR7 and TLR9 proteins were present in IIM (prominently in PM), mainly on cell infiltrates, particularly plasma cells, and on some injured myofibers.

Conclusions:

IFN-β and type I IFN-induced molecules are involved in PM as well as JDM/dermatomyositis. Endosomal TLRs (effectors of innate immunity) are also involved (but differently) in the 3 conditions, further suggesting viral involvement, although TLR activation could be secondary to tissue damage.

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Supplementary Material

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Information & Authors

Information

Published In

Neurology®
Volume 76Number 24June 14, 2011
Pages: 2079-2088
PubMed: 21670437

Publication History

Received: July 6, 2010
Accepted: February 25, 2011
Published online: June 13, 2011
Published in print: June 14, 2011

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Disclosure

Dr. Cappelletti, Dr. Baggi, Dr. Zolezzi, Dr. Biancolini, Dr. Beretta, and Dr. Severa report no disclosures. Dr. Coccia has received research support from the Fondazione Italiana Sclerosi Multipla. Dr. Confalonieri has received funding for travel from sanofi-aventis and Bayer Schering Pharma; has served as a consultant for Biogen Idec; and has received research support from Merck Serono, Biogen Idec, and sanofi-aventis. Dr. Morandi receives research support from Telethon and the Agenzia Italiana Farmaco (AIFA). Dr. Mora reports no disclosures. Dr. Mantegazza has served on a scientific advisory board for GlaxoSmithKline; has received funding for travel from sanofi-aventis; has received a speaker honorarium from MEDA Pharmaceuticals Inc.; and receives research support from CARIPLO (Fondazione-Cassa di Risparmio delle Provincie Lombarde), Regione Lombardia, AVASM (Associazione Volontari Aiuti Sclerosi Multipla), and AIM (Associazione Italiana per la lotta alla Miastenia). Dr. Bernasconi has received a speaker honorarium from MEDA Pharmaceuticals Inc.

Authors

Affiliations & Disclosures

C. Cappelletti, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
F. Baggi, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
F. Zolezzi, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
D. Biancolini, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
O. Beretta, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
M. Severa, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
E.M. Coccia, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
P. Confalonieri, MD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
L. Morandi, MD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
M. Mora, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
R. Mantegazza, MD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).
P. Bernasconi, PhD
From the Department of Neurology IV, Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico “Carlo Besta,” Milan, Italy (C.C., F.B., P.C., L.M., M.M., R.M., P.B.); Genopolis Consortium for Functional Genomics, Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, Italy (F.Z., D.B., O.B.); Department of Infectious, Parasitic and Immune-mediated Diseases, Istituto Superiore di Sanità, Rome, Italy (M.S., E.M.C.).

Notes

Address correspondence and reprint requests to Dr. Pia Bernasconi, Department of Neurology IV, Neurological Institute Foundation “Carlo Besta,” Via Celoria 11, 20133 Milan, Italy [email protected]
Study funding: Supported by the Italian Ministry of Health 2007–2009 (annual research funding to P.B. and R.M.); the Associazione Volontari Aiuti per la Sclerosi Multipla (RP16 to R.M.); the Fondazione Italiana Sclerosi Multipla (FISM 2009/R/7 to E.M.C.); and the European Union (TOLERAGE HEALTH-F4-2008-202156 to F.Z. and D.B.).

Author Contributions

Statistical analysis was conducted by Dr. F. Baggi.

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