PXD053742

PXD053742 is an original dataset announced via ProteomeXchange.

Title	Mitochondrial leakage and mtDNA damage triggering early immune response in Inclusion Body Myositis.
Description	Polymyositis with mitochondrial pathology (PM-Mito) was first identified in 1997 as a subtype of idiopathic inflammatory myopathy (IIM). Significant molecular similarities have been recently detected between PM-Mito and Inclusion Body Myositis (IBM), suggesting a trajectory from early to full-blown IBM, and prompting the inclusion of PM-Mito as an early form of IBM (eIBM) within the IBM spectrum. Both early and late stages of IBM show mitochondrial abnormalities, suggesting mitochondrial dysfunction is an early feature of IBM. The primary objective of this study was to characterize the mitochondrial phenotype in eIBM/PM-Mito at histological, ultrastructural, and molecular levels and to study the possible interplay between mitochondrial dysfunction and inflammation. Skeletal muscle biopsies of 27 patients with eIBM/PM-Mito and 27 full-blown IBM were included for morphological and ultrastructural analysis. Mitochondrial DNA (mtDNA) copy number and deletions were assessed by qPCR 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 (cfmtDNA) was measured in the serum of full-blown IBM patients.
HostingRepository	PRIDE
AnnounceDate	2026-04-13
AnnouncementXML	Submission_2026-04-12_18:34:57.742.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Andreas Hentschel
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2024-07-07 23:58:44	ID requested
⏵ 1	2026-04-12 18:35:00	announced

10.1093/brain/awaf118;

Kleefeld F, Cross E, Lagos D, Walli S, Schoser B, Hentschel A, Ruck T, Nelke C, Hahn K, Hathazi D, Mammen AL, Casal-Dominguez M, Gut M, Gut IG, Heath S, Sch, ä, nzer A, Goebel HH, Pinal-Fernandez I, Roos A, Preu, ß, e C, Stenzel W, Horvath R, Mitochondrial damage is associated with an early immune response in inclusion body myositis. Brain, 148(9):3199-3214(2025) [pubmed]

submitter keyword: Polymyositis with mitochondrial pathology

PM-Mito

IBM-SD

mitochondria

Albert Sickmann
contact affiliation	Proteomics,Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany
contact email	albert.sickmann@isas.de
lab head
Andreas Hentschel
contact affiliation	Leibniz Institut für Analytische Wissenschaften
contact email	andreas.hentschel@isas.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD053742

PRIDE project URI

• PRIDE
  1. PXD053742
     1. Label: PRIDE project
     2. Name: Mitochondrial leakage and mtDNA damage triggering early immune response in Inclusion Body Myositis.