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Frontiers in Immunology 2023Idiopathic inflammatory myopathies (IIMs) are common autoimmune diseases that affect skeletal muscle quality and function. The lack of an early diagnosis and treatment... (Review)
Review
Idiopathic inflammatory myopathies (IIMs) are common autoimmune diseases that affect skeletal muscle quality and function. The lack of an early diagnosis and treatment can lead to irreversible muscle damage. Non-coding RNAs (ncRNAs) play an important role in inflammatory transfer, muscle regeneration, differentiation, and regulation of specific antibody levels and pain in IIMs. ncRNAs can be detected in blood and hair; therefore, ncRNAs detection has great potential for diagnosing, preventing, and treating IIMs in conjunction with other methods. However, the specific roles and mechanisms underlying the regulation of IIMs and their subtypes remain unclear. Here, we review the mechanisms by which micro RNAs and long non-coding RNA-messenger RNA networks regulate IIMs to provide a basis for ncRNAs use as diagnostic tools and therapeutic targets for IIMs.
Topics: Humans; Myositis; RNA, Untranslated; Autoimmune Diseases; MicroRNAs; Muscle, Skeletal
PubMed: 37744337
DOI: 10.3389/fimmu.2023.1227945 -
MedRxiv : the Preprint Server For... Jan 2024Myositis is a heterogeneous family of autoimmune muscle diseases. As myositis autoantibodies recognize intracellular proteins, their role in disease pathogenesis has...
OBJECTIVES
Myositis is a heterogeneous family of autoimmune muscle diseases. As myositis autoantibodies recognize intracellular proteins, their role in disease pathogenesis has been unclear. This study aimed to determine whether myositis autoantibodies reach their autoantigen targets within muscle cells and disrupt the normal function of these proteins.
METHODS
Confocal immunofluorescence microscopy was used to localize antibodies and other proteins of interest in myositis muscle biopsies. Bulk RNA sequencing was used to study the transcriptomic profiles of 668 samples from patients with myositis, disease controls, and healthy controls. Antibodies from myositis patients were introduced into cultured myoblasts by electroporation and the transcriptomic profiles of the treated myoblasts were studied by bulk RNA sequencing.
RESULTS
In patients with myositis autoantibodies, antibodies accumulated inside myofibers in the same subcellular compartment as the autoantigen. Each autoantibody was associated with effects consistent with dysfunction of its autoantigen, such as the derepression of genes normally repressed by Mi2/NuRD in patients with anti-Mi2 autoantibodies, the accumulation of RNAs degraded by the nuclear RNA exosome complex in patients with anti-PM/Scl autoantibodies targeting this complex, and the accumulation of lipids within myofibers of anti-HMGCR-positive patients. Internalization of patient immunoglobulin into cultured myoblasts recapitulated the transcriptomic phenotypes observed in human disease, including the derepression of Mi2/NuRD-regulated genes in anti-Mi2-positive dermatomyositis and the increased expression of genes normally degraded by the nuclear RNA exosome complex in anti-PM/Scl-positive myositis.
CONCLUSIONS
In myositis, autoantibodies are internalized into muscle fibers, disrupt the biological function of their autoantigen, and mediate the pathophysiology of the disease.
PubMed: 38313303
DOI: 10.1101/2024.01.15.24301339 -
Frontiers in Neurology 2023
PubMed: 37614973
DOI: 10.3389/fneur.2023.1259275 -
Clinical Rheumatology Oct 2023Cardiovascular involvement in idiopathic inflammatory myopathies (IIM) is an understudied area which is gaining increasing recognition in recent times. Recent advances... (Review)
Review
Cardiovascular involvement in idiopathic inflammatory myopathies (IIM) is an understudied area which is gaining increasing recognition in recent times. Recent advances in imaging modalities and biomarkers have allowed the detection of subclinical cardiovascular manifestations in IIM. However, despite the availability of these tools, the diagnostic challenges and underestimated prevalence of cardiovascular involvement in these patients remain significant. Notably, cardiovascular involvement remains one of the leading causes of mortality in patients with IIM. In this narrative literature review, we outline the prevalence and characteristics of cardiovascular involvement in IIM. Additionally, we explore investigational modalities for early detection of cardiovascular involvement, as well as newer approaches in screening to facilitate timely management. Key points • Cardiac involvement in IIM in majority cases is subclinical and a major cause of mortality. • Cardiac magnetic resonance imaging is sensitive for detection of subclinical cardiac involvement.
Topics: Humans; Myositis; Heart; Magnetic Resonance Imaging; Biomarkers
PubMed: 37148365
DOI: 10.1007/s10067-023-06599-4 -
Oxford Medical Case Reports Mar 2024Retinoid-induced myositis is a phenomenon recognised in multiple case reports. We report a case of isotretinoin-induced myositis in an 18-year-old male patient. This...
Retinoid-induced myositis is a phenomenon recognised in multiple case reports. We report a case of isotretinoin-induced myositis in an 18-year-old male patient. This case adds to the published literature as it demonstrates (i) myositis may occur after extended periods of isotretinoin use, (ii) should be considered as a differential diagnosis even when presenting asymmetrically and (iii) can continue to progress clinically and biochemically initially following the suspension of isotretinoin before being effectively treated with corticosteroids.
PubMed: 38532764
DOI: 10.1093/omcr/omae017 -
Annals of Clinical and Translational... Nov 2023Anti-mitochondrial antibodies (AMAs) are associated with idiopathic inflammatory myopathies (IIMs). We aimed to summarize the clinicopathological characteristics, assess...
OBJECTIVE
Anti-mitochondrial antibodies (AMAs) are associated with idiopathic inflammatory myopathies (IIMs). We aimed to summarize the clinicopathological characteristics, assess circulating cell-free mitochondrial DNA (ccf-mtDNA), and circulating cell-free nuclear DNA (ccf-nDNA) in AMA-associated IIMs.
METHODS
Medical records of 37 IIMs patients with AMAs were reviewed. Circulating cell-free mtDNA and ccf-nDNA levels in sera from IIMs patients with AMAs (n = 21), disease controls (n = 66) and healthy controls (HCs) (n = 23) were measured and compared. Twenty-eight immune-mediated necrotizing myopathy (IMNM) patients, 23 dermatomyositis (DM) patients, and 15 anti-synthetase syndrome (ASS) patients were enrolled as disease controls. Correlations between variables were analyzed.
RESULTS
Limb weakness was observed in 75.7% and neck weakness in 56.8% of patients. Cardiac involvement occurred in 51.4% of patients. Muscle pathology revealed 81.1% of IMNM, 5.4% polymyositis, and 13.5% nonspecific myositis. Microinfarction was observed in 8.1% of patients. Serum ccf-mtDNA levels in AMA-associated IIMs were significantly higher than those in HCs (p < 0.001), but no significant differences between AMA-associated IIMs and IMNM, DM, or ASS. Serum ccf-nDNA levels in AMA-associated IIMs were significantly higher than those in HCs (p = 0.02), and significantly lower than those in DM (p = 0.02). Serum ccf-nDNA levels correlated negatively with MMT8 total scores (rs = -0.458, p = 0.037) and positively with mRS scores (rs = 0.486, p = 0.025). Serum ccf-nDNA levels were significantly higher in the non-remission group (p < 0.01).
INTERPRETATION
AMA-associated IIMs exhibit distinct clinicopathological features. Serum ccf-nDNA may serve as a potential marker for disease severity and prognosis in AMA-associated IIMs.
Topics: Humans; Autoantibodies; Myositis; Autoimmune Diseases; Muscles; DNA, Mitochondrial
PubMed: 37723899
DOI: 10.1002/acn3.51901 -
Ugeskrift For Laeger Aug 2023
Topics: Humans; Dermatomyositis; Eye Diseases; Angioedema; Edema
PubMed: 37615155
DOI: No ID Found -
Current Rheumatology Reports Dec 2023This article serves as a comprehensive review, focusing on digital approaches utilized in the diagnosis, monitoring, and treatment of patients with idiopathic... (Review)
Review
PURPOSE OF REVIEW
This article serves as a comprehensive review, focusing on digital approaches utilized in the diagnosis, monitoring, and treatment of patients with idiopathic inflammatory myopathies (IIM). The authors critically assess the literature published in the last three years, evaluating the advancements and progress achieved in this specific domain.
RECENT FINDINGS
Remarkable strides have been made in the realm of digital diagnostic support, particularly in image analysis and clinical prediction models, showing promise in aiding the diagnosis of IIM. The field of remote patient monitoring has also witnessed significant advancements, revolutionizing the care process by offering more convenient, data-driven, and continuous monitoring for IIM patients. Various digital tools, such as wearables, video- and voice consultations, and electronic patient-reported outcomes, have been extensively explored and implemented to enhance patient care. Survey studies consistently reveal a high acceptance of telehealth services among patients. Additionally, internet-based studies have facilitated the efficient and rapid recruitment of IIM patients for research purposes. Moreover, the integration of sensors and exoskeletons has shown great potential in significantly improving the functionality and quality of life for individuals with muscle weakness caused by IIM. The integration of digital health solutions in the care of IIM patients is steadily gaining attention and exploration. Although the existing evidence is limited, it does indicate that patients can be adequately and safely supported through digital means throughout their entire healthcare journey. The growing interest in digital health technologies holds the promise of improving the overall management and outcomes for individuals with idiopathic inflammatory myopathies.
Topics: Humans; Quality of Life; Myositis; Surveys and Questionnaires
PubMed: 37962833
DOI: 10.1007/s11926-023-01119-4 -
Ugeskrift For Laeger Nov 2023Juvenile dermatomyositis (JDM) is a rare condition, which causes inflammation in children's skin and musculoskeletal systems. Symptoms include characteristic skin rashes...
Juvenile dermatomyositis (JDM) is a rare condition, which causes inflammation in children's skin and musculoskeletal systems. Symptoms include characteristic skin rashes on the face and extremities, muscle pain and weakness. This is a case report of a ten-year-old boy initially suspected of having lupus erythematosus. He was later diagnosed with JDM by dermatologists. Treatment with methotrexate and prednisolone proved to be effective.
Topics: Male; Child; Humans; Dermatomyositis; Methotrexate; Skin; Inflammation; Prednisolone
PubMed: 37987452
DOI: No ID Found