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Recent findings demonstrated significant molecular similarities between PM-Mito and inclusion body myositis (IBM), suggesting a trajectory from early to late IBM and prompting the inclusion of PM-Mito as an IBM precursor (early IBM) within the IBM spectrum. Both PM-Mito and IBM show mitochondrial abnormalities, suggesting that mitochondrial disturbance is a crucial element of IBM pathogenesis.<\/jats:p>\n                  <jats:p>The primary objective of this cross-sectional study was to characterize the mitochondrial phenotype in PM-Mito at histological, ultrastructural and molecular levels and to study the interplay between mitochondrial dysfunction and inflammation. Skeletal muscle biopsies of 27 patients with PM-Mito and 27 with typical IBM were included for morphological and ultrastructural analysis. Mitochondrial DNA (mtDNA) copy number and deletions were assessed by quantitative PCR and long-range PCR, respectively. In addition, full-length single-molecule sequencing of the mtDNA enabled precise mapping of deletions. Protein and RNA levels were studied using unbiased proteomic profiling, immunoblotting and bulk RNA sequencing. Cell-free mtDNA was measured in the serum of IBM patients.<\/jats:p>\n                  <jats:p>We found widespread mitochondrial abnormalities in both PM-Mito and IBM, illustrated by elevated numbers of cytochrome c oxidase (COX)-negative and succinate dehydrogenase (SDH)-positive fibres and prominent ultrastructural abnormalities, with disorganized and concentric cristae within enlarged and dysmorphic mitochondria. mtDNA copy numbers were significantly reduced, and multiple large-scale mtDNA deletions were already evident in PM-Mito compared with healthy age-matched controls, similar to the IBM group. The canonical cyclic GMP\u2013AMP synthase\/stimulator of interferon genes inflammatory pathway was activated in PM-Mito and IBM, and we detected elevated levels of circulating cell-free mtDNA indicative of mtDNA leakage. In PM-Mito and IBM, these findings were accompanied by dysregulation of proteins and transcripts linked to the mitochondrial membranes.<\/jats:p>\n                  <jats:p>In summary, we identified that mitochondrial dysfunction with multiple mtDNA deletions and depletion, disturbed mitochondrial ultrastructure and defects of the inner mitochondrial membrane are features of PM-Mito and IBM, underlining the concept of an IBM-spectrum disease. Notably, mitochondrial abnormalities precede tissue remodelling and infiltration by specific T-cell subpopulations (e.g. KLRG1+) characteristic of late IBM. The activation of inflammatory, DNA-sensing pathways might be related to mtDNA release, which would indicate a significant role of mitochondria-associated inflammation in the pathogenesis of IBM-spectrum disease. This study highlights the crucial role of early mitochondrial abnormalities in the pathomechanism of IBM, which might lead to new approaches to therapy.<\/jats:p>","DOI":"10.1093\/brain\/awaf118","type":"journal-article","created":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T17:21:25Z","timestamp":1744046485000},"page":"3199-3214","source":"Crossref","is-referenced-by-count":20,"title":["Mitochondrial damage is associated with an early immune response in inclusion body myositis"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0643-7313","authenticated-orcid":false,"given":"Felix","family":"Kleefeld","sequence":"first","affiliation":[{"name":"Department of Neurology, Berlin Institute of Health (BIH), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Corporate member of Freie Universit\u00e4t Berlin, Humboldt, Universit\u00e4t zu Berlin , 10117 Berlin ,","place":["Germany"]},{"name":"Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum , 44789 Bochum ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Cross","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Lagos","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Walli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, Heinrich Heine University D\u00fcsseldorf , 40225 D\u00fcsseldorf ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University , 80336 Munich ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz-Institut f\u00fcr Analytische Wissenschaften\u2014ISAS e.V. , 44139 Dortmund ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Ruck","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, Heinrich Heine University D\u00fcsseldorf , 40225 D\u00fcsseldorf ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Nelke","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, Heinrich Heine University D\u00fcsseldorf , 40225 D\u00fcsseldorf ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Berlin Institute of Health (BIH), Charit\u00e9-Universit\u00e4tsmedizin Berlin, Corporate member of Freie Universit\u00e4t Berlin, Humboldt, Universit\u00e4t zu Berlin , 10117 Berlin ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisa","family":"Hathazi","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew L","family":"Mammen","sequence":"additional","affiliation":[{"name":"Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health , Bethesda, MD 20892 ,","place":["USA"]},{"name":"Department of Neurology, Johns Hopkins University School of 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Glynne","family":"Gut","sequence":"additional","affiliation":[{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG) , 08028 Barcelona ,","place":["Spain"]},{"name":"Universitat de Barcelona (UB) , Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra (UPF), 08002 Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Heath","sequence":"additional","affiliation":[{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG) , 08028 Barcelona ,","place":["Spain"]},{"name":"Universitat de Barcelona (UB) , Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra (UPF), 08002 Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2014-2028","authenticated-orcid":false,"given":"Anne","family":"Sch\u00e4nzer","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, Justus Liebig University , 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