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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Dermatomyositis

ABSTRACT: muscle biopsies of normal and dermatomyositis patients

ORGANISM(S): Homo sapiens

SUBMITTER: Steven Alan Greenberg

PROVIDER: E-GEOD-1551 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis.

Greenberg Steven A SA Pinkus Jack L JL Pinkus Geraldine S GS Burleson Travis T Sanoudou Despina D Tawil Rabi R Barohn Richard J RJ Saperstein David S DS Briemberg Hannah R HR Ericsson Maria M Park Peter P Amato Anthony A AA

Annals of neurology 20050501 5

Dermatomyositis has been modeled as an autoimmune disease largely mediated by the adaptive immune system, including a local humorally mediated response with B and T helper cell muscle infiltration, antibody and complement-mediated injury of capillaries, and perifascicular atrophy of muscle fibers caused by ischemia. To further understand the pathophysiology of dermatomyositis, we used microarrays, computational methods, immunohistochemistry and electron microscopy to study muscle specimens from ...[more]

PMID: 15852401

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dermatomyositis

Project description:muscle biopsies of normal and dermatomyositis patients Keywords: other

2004-10-01 | GSE1551 | GEO

Gene Expression Analysis of Dermatomyositis Skin

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Transcription profiling by array of muscle biopsies from patients with dermatomyositis or with polymyositis

Project description:Muscle biopsies were taken from 6 patients with dermatomyositis, 4 with polymyositis and 5 not myopathic subjects as controls. The genome-wide expression patterns were compared using Affymetrix HG-U133A chips. Experiment Overall Design: Gene expression profiles were generated for 15 individuals.

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A phase 2, open label single arm study for evaluating safety & efficacy of apremilast in the treatment of cutaneous disease in patients with recalcitrant dermatomyositis.

Project description:Purpose: Studying the efficacy and safety of apremilast as an add-on therapy in patients with recalcitrant cutaneous dermatomyositis. Studying the mechanism of action of apremilast in dermatomyositis by performing RNA sequencing and immunohistochemistry on skin biopsies before and after treatment. Methods: We enrolled 8 patients with recalcitrant dermatomyositis. Apremilast 30 mg orally twice daily was added to a stable treatment regimen of steroids and/or steroids sparing agents and patients were followed for 7 months. A CDASI, muscle score, dermatology life quality index (DLQI), and depression assessments were performed at baseline and regularly till month 7. Skin biopsies were performed at baseline and 3-months post-apremilast to study gene expression alterations. Results: Our ORR assessed at 3 months post apremilast was 87.5%. The response was maintained at 6 months with continued decrease in CDASI and improvement in DLQI. The mean decrease in CDASI was 12.9 points (p<0.05). Apremilast was well tolerated and without any grade 3 or higher adverse events using CTCAE version 5. RNA sequencing was performed on skin biopsies from 7 patients before and 3 months after apremilast. Out of 39,076 expressed genes, there were 195 whose expression changed ≥2-fold at P<0.01 (123 down- and 72 up-regulated), several genes are known JAK-STAT targets. Using GSEA analysis, we identified 13 pathways significantly downregulated by apremilast, notably STAT1, STAT3, IL-2, IL-6, IL-12, IL-23, INFγ, and TNFα pathways. Immunohistochemical staining confirmed JAK/STAT signaling inhibition at the protein level. Conclusions: Apremilast is a safe and efficacious add-on treatment in recalcitrant dermatomyositis with an overall response rate of 87.5%, and functions through downregulation of JAK/STAT signaling in dermatomyositis.

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Expression data from inflammatory myopathies

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2013-12-01 | E-GEOD-48280 | biostudies-arrayexpress

Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies

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Transcription profiling of human muscle biopsies from pre-treatment dermatomyostitis patients vs. normal controls to define molecular pathways in muscle of myositis patients.

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2007-10-26 | E-GEOD-5370 | biostudies-arrayexpress

Skeletal muscles of untreated children with juvenile dermatomyositis

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