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Abstract Number: 2065

Proposed Pathways Involved in the Pathogenesis of Juvenile Dermatomyositis (JDM)

Samantha Coss1, Danlei Zhou1, Rabheh Abdul Aziz2, Katherine Miller3, Shoghik Akoghlanian4, Kyla Driest1, Edward Oberle1, Vidya Sivaraman5, Charles Spencer6, Stacy Ardoin1 and Chack-Yung Yu7, 1Nationwide Children's Hospital, Columbus, OH, 2University at Buffalo, Buffalo, NY, 3Nationwide Children's Hospital, Institute for Genomic Medicine, Columbus, OH, 4Nationwide Children�s Hospital, Columbus, OH, 5Nationwide Children's Hospital/ The Ohio State University, Columbus, OH, 6University of Mississippi Medical Center, Jackson, MS, 7Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, OH

Meeting: ACR Convergence 2024

Keywords: Autoantibody(ies), autoimmune diseases, complement, dermatomyositis, genetics

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Session Information

Date: Monday, November 18, 2024

Title: Muscle Biology, Myositis & Myopathies – Basic & Clinical Science Poster III

Session Type: Poster Session C

Session Time: 10:30AM-12:30PM

Background/Purpose: JDM is an autoimmune disease of skin and muscle. We investigated genetic factors, autoantibodies, and clinical features in JDM.

Methods: Subjects came from 2 large institutions (n=61). Techniques included Southern blot (C4 gene copy number [GCN]), NovaSeq6000 S2 PE150bp whole exome sequencing (WES) with 100x median coverage, and flow cytometry (complement deposition).

Results: C4 GCN was associated with pathology at diagnosis. Lower C4A and C4L but higher C4B and C4S GCN were associated with elevated muscle enzymes (p=0.034, p=0.020, 0.026, and p=0.010). Higher C4S GCN correlated with lower muscle strength (p=0.039) and lower C4L with abnormal MRI (p= 0.039). Higher C4S GCN was associated with including arthritis (p=0.032), systemic symptoms (p=0.020), and dysphagia (p=0.0078). Patients with JDM had increased complement activation including higher levels of circulating C3a, C4a, and C5a (p< 0.0001, p=0.028, and p< 0.0001) and increased RBC-bound C4d (p< 0.0001), particularly in patients with C4A insufficiency and higher C4B GCN (p=0.0003 and p=0.003). WES identified genes involved in endothelial/skin and muscle homeostasis, mitochondrial function, and transcription. These pathways are targeted by autoantibodies. Genes mutated in our patients included titin (muscle protein) in 30% and solute carrier protein 25 (mitochondrial transport) in 22%.

Conclusion: Our data suggest that C4 plays a key role in JDM and that autoantibodies may develop against mutated proteins involved in mucosal, skin, and muscle homeostasis.


Disclosures: S. Coss: None; D. Zhou: None; R. Abdul Aziz: None; K. Miller: None; S. Akoghlanian: None; K. Driest: None; E. Oberle: None; V. Sivaraman: None; C. Spencer: None; S. Ardoin: Childhood Arthritis and Rheumatology Research Alliance, 4; C. Yu: None.

To cite this abstract in AMA style:

Coss S, Zhou D, Abdul Aziz R, Miller K, Akoghlanian S, Driest K, Oberle E, Sivaraman V, Spencer C, Ardoin S, Yu C. Proposed Pathways Involved in the Pathogenesis of Juvenile Dermatomyositis (JDM) [abstract]. Arthritis Rheumatol. 2024; 76 (suppl 9). https://acrabstracts.org/abstract/proposed-pathways-involved-in-the-pathogenesis-of-juvenile-dermatomyositis-jdm/. Accessed .
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