Anti-MDA5 antibody-positive hypomyopathic dermatomyositis complicated with pneumomediastinum

Yashiro, Makiko; Asano, Tomohiko; Sato, Shuzo; Kobayashi, Hiroko; Watanabe, Hiroshi; Miyata, Masayuki; Migita, Kiyoshi

doi:10.5387/fms.2018-01

Cited by 14 publications

(11 citation statements)

References 22 publications

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“…In addition, we found upregulation of the genes produced during extracellular or intracellular dsRNA viral replication. Recently, several papers have documented the modulation of MDA5 in JDM muscle biopsies [ 60 ]. This molecule is like an intracellular pathogen sensor that is located in the cytosol, and belongs to the family of RIG-I-like receptors (RLRs), as well as RIG-I [ 61 ].…”

Section: Discussionmentioning

confidence: 99%

Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection

Musumeci

Castrogiovanni

Barbagallo

et al. 2018

IJMS

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Background: Juvenile dermatomyositis (JDM) is a systemic, autoimmune, interferon (IFN)-mediated inflammatory muscle disorder that affects children younger than 18 years of age. JDM primarily affects the skin and the skeletal muscles. Interestingly, the role of viral infections has been hypothesized. Mammalian 2′-5′-oligoadenylate synthetase (OAS) genes have been thoroughly characterized as components of the IFN-induced antiviral system, and they are connected to several innate immune-activated diseases. The main purpose of the paper is to define the potential interrelationship between the OAS gene family network and the molecular events that characterize JDM along with double-stranded RNA (dsRNA) molecular pathways. Methods: We analyzed three microarray datasets obtained from the NCBI in order to verify the expression levels of the OAS gene family network in muscle biopsies (MBx) of JDM patients compared to healthy controls. Furthermore, From GSE51392, we decided to select significant gene expression profiles of primary nasal and bronchial epithelial cells isolated from healthy subjects and treated with polyinosinic-polycytidylic acid (poly(I:C)), a synthetic analog of double-stranded RNA (dsRNA), a molecular pattern associated with viral infection. Results: The analysis showed that all OAS genes were modulated in JDM muscle biopsies. Furthermore, 99% of OASs gene family networks were significantly upregulated. Of importance, 39.9% of modulated genes in JDM overlapped with those of primary epithelial cells treated with poly(I:C). Moreover, the microarray analysis showed that the double-stranded dsRNA virus gene network was highly expressed. In addition, we showed that the innate/adaptive immunity markers were significantly expressed in JDM muscles biopsies. and that their levels were positively correlated to OAS gene family expression. Conclusion: OAS gene expression is extremely modulated in JDM as well as in the dsRNA viral gene network. These data lead us to speculate on the potential involvement of a viral infection as a trigger moment for this systemic autoimmune disease. Further in vitro and translational studies are needed to verify this hypothesis in order to strategically plan treatment interventions.

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Section: Discussionmentioning

confidence: 99%

Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection

Musumeci

Castrogiovanni

Barbagallo

et al. 2018

IJMS

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“…Dermatomyositis can be subclassified according to particular Abs, one of which is anti-melanoma differentiation-associated protein 5 (anti-MDA5), seen in 10-35% of cases [1]. Anti-MDA5 is reported to be an independent risk factor for interstitial lung disease-(ILD-) associated mortality [2]. Although typically associated with clinical amyopathic dermatomyositis (CADM), 42.9-54.5% anti-MDA5 patients can demonstrate overt clinical myopathy [1,3].…”

Section: Introductionmentioning

confidence: 99%

Spontaneous Pneumomediastinum due to Anti-Melanoma Differentiation-Associated Protein 5 Requiring a Bilateral Lung Transplant

Jhajj

Yeung

2021

Case Reports in Rheumatology

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Anti-melanoma differentiation-associated protein 5 (anti-MDA5) is a subset of dermatomyositis associated with respiratory complications, in which rapidly progressive interstitial lung disease (RPILD) is commonly cited, and spontaneous pneumomediastinum (SPM) is a rare complication. In medical literature, aggressive immunosuppressive therapy has been the mainstay of anti-MDA5-associated SPM management. Here, we report the first MDA5 case with SPM which was successfully treated with a double-lung transplant. We present a 48-year-old male who presented with multiple constitutional symptoms such as fevers, weight loss, malaise, and arthralgias, in association with erythroderma over the ears and fingers. Imaging of the chest demonstrated peripheral airspace disease, and myositis-specific serology returned positive for anti-Jo1 (medium-positive), anti-Ro52 (high-positive), and anti-MDA5 (weak-positive) autoantibodies. Therefore, the patient was begun on immunosuppressive therapy as the leading diagnosis included autoimmune myositis, possibly antisynthetase syndrome with interstitial lung disease (ILD). A year later, the patient presented with progressive shortness of breath, widespread macular erythematous facial rash, and new erythematous ulcerations over the fingertips. Imaging demonstrated a new SPM at this juncture. As the patient’s respiratory status continued to decline despite the use of immunosuppressive agents, a double-lung transplant was performed. Therefore, we propose that lung transplantation should be considered early in MDA5-SPM.

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“…One patient presented with subjective proximal muscle weakness and had a normal CK level, while a second patient endorsed proximal muscle weakness and tenderness with an elevated CK. 3 , 4 Thus, anti-MDA5 antibody-associated dermatomyositis usually presents without myositis, but a spectrum of muscle involvement is possible.…”

Section: Discussionmentioning

confidence: 99%

Anti-MDA5 Antibody-Associated Clinically Amyopathic Dermatomyositis: Case Report and Literature Review

et al. 2021

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Anti-MDA5 antibody-positive hypomyopathic dermatomyositis complicated with pneumomediastinum

Cited by 14 publications

References 22 publications

Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection

Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection

Spontaneous Pneumomediastinum due to Anti-Melanoma Differentiation-Associated Protein 5 Requiring a Bilateral Lung Transplant

Anti-MDA5 Antibody-Associated Clinically Amyopathic Dermatomyositis: Case Report and Literature Review

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