A5024404002- Muscle Physiology and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Genetic Neurodegenerative Diseases
- Skin Diseases and Diabetes
- Eosinophilic Disorders and Syndromes
- Viral Infections and Immunology Research
- Systemic Sclerosis and Related Diseases
- Cardiomyopathy and Myosin Studies
- Autophagy in Disease and Therapy
- Tissue Engineering and Regenerative Medicine
- Nuclear Structure and Function
- Mitochondrial Function and Pathology
- Cellular Mechanics and Interactions
- Telomeres, Telomerase, and Senescence
- Body Composition Measurement Techniques
- Adipose Tissue and Metabolism
- Dermatological and Skeletal Disorders
- Ear and Head Tumors
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease and Spinal Disorders
- Cannabis and Cannabinoid Research
- Lysosomal Storage Disorders Research
- Blood disorders and treatments
- Mosquito-borne diseases and control
- Parkinson's Disease Mechanisms and Treatments
Institut Mondor de Recherche Biomédicale
2019-2024
Inserm
2017-2024
Université Paris-Est Créteil
2017-2024
Assistance Publique – Hôpitaux de Paris
2021-2024
Centre Hospitalier Universitaire Henri-Mondor
2019-2024
École Nationale Vétérinaire d'Alfort
2022-2023
Université Paris Dauphine-PSL
2023
Hôpitaux Universitaires Henri-Mondor
2017-2020
Objective The role of interferons (IFN) in the pathophysiology primary inflammatory and dysimmune myopathies (IDM) is increasingly investigated, notably because specific neutralisation approaches may constitute promising therapeutic tracks. In present work we analysed muscular expression IFNα/β IFNγ-stimulated genes patients with various types IDM. Methods 39 IDM inclusion body myositis (IBM, n=9), dermatomyositis (DM, n=10), necrotising autoimmune (NAM, n=10) antisynthetase (ASM, 10...
Duchenne muscular dystrophy (DMD) is a devastating X-linked disease, caused by mutations in the DMD gene encoding Dystrophin and affecting 1:5000 boys worldwide. Lack of leads to progressive muscle wasting degeneration resulting cardiorespiratory failure. Despite absence definitive cure, innovative therapeutic avenues are emerging. Myopathologic studies important further understand biological mechanisms disease identify histopathologic benchmarks for clinical evaluations. We conducted...
Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons, with typical lifespan of 3–5 years. Altered metabolism key feature ALS that strongly influences prognosis, an increase in whole body energy expenditure and changes skeletal muscle metabolism, including greater reliance on fat oxidation. Dyslipidaemia has been described as part the metabolic dysregulation, but its role pathophysiology disease remains controversial. Among lipids,...
The quantitative analysis of muscle histomorphometry has been growing in importance both research and clinical settings. Accurate stringent assessment myofibers' changes size number, alterations the proportion oxidative (type I) glycolytic II) fibers is essential for appropriate study aging pathological muscle, as well diagnosis follow-up diseases. Manual semi-automated methods to assess morphometry sections are time-consuming, limited a small field analysis, susceptible bias, while most...
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disorder caused by mutations in the Dystrophin gene and for which there currently no cure. To bridge gap between preclinical therapeutic evaluation studies, we have generated rat model DMD that carries an exon 52 deletion (R-DMDdel52) causing complete lack of dystrophin protein. Here show R-DMDdel52 animals recapitulated human pathophysiological trajectory more faithfully than mdx mouse model. We report rats displayed progressive...
Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset acquired characterized by the presence of clusters bodies (rods) inside atrophic muscle fibers, with mild to no inflammation. Graft-versus-host disease (GVHD) systemic disorder occurring after allogenic hematopoietic stem cell transplant (allo-HSCT) variably associated immune-mediated neuromuscular complications such as myositis, peripheral neuropathy, and myasthenic syndromes. A 49-year-old woman an acute myeloid leukemia...
ABSTRACT This study aimed to investigate the spatial heterogeneity of molecular signature in muscle juvenile dermatomyositis (JDM) patients before and after treatment comparison healthy paediatric tissue. Unsupervised reference-free deconvolution transcriptomics standardized morphometry were performed two JDM biopsies with different clinical severity at disease onset compared muscle. In a second step, identified signatures scored additional from same patient remission. Disappearance normal...
Idiopathic immune myopathies (IIM) represent a heterogeneous group of diseases, in which muscle lesions result from deregulated reactions. Typical histological features include myofibre necrosis, leukocyte infiltration, and aberrant Major Histocompatibility Complex (MHC) expression. To investigate the link between MHC expression, inflammation, lesions, biopsies IIM patients were analysed by transcriptomics. Both, anti-synthetase syndrome (ASS) inclusion body myositis (IBM) displayed...
The aim of this study was to identify key routinely used myopathologic biomarkers FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n=20, m. tibialis anterior (TA), n=13, biceps brachii, n=1) from 22 patients (age, 53.5 (10) years; M=12, F=10). Eleven had more than one biopsy (2xQF, n=1; QF+TA, n=9; 2xQF+TA, n=1). Histochemistry, immunoperoxidase, and immunofluorescence stainings performed compared age type matched specimens 11 healthy controls....
Juvenile idiopathic inflammatory/immune myopathies (IIMs) constitute a highly heterogeneous group of disorders with diagnostic difficulties and prognostic uncertainties. Circulating myositis-specific autoantibodies (MSAs) have been recognized as reliable tools for patient substratification. Considering the key role type I interferon (IFN) up-regulation in juvenile IIM, we undertook present study to investigate whether IFN-induced 15-kd protein (ISG-15) could be biomarker stratification...
The necrosis of muscle fibres (myonecrosis) plays a central role in the pathogenesis several conditions, including muscular dystrophies. Therapeutic options addressing causes dystrophy are expected to alleviate degeneration. Therefore, method assay and quantify extent cell death biopsies is needed. Conventional methods observe myofiber degeneration situ either poorly quantitative or rely on injection vital dyes. In this article, an immunofluorescence protocol described that stains necrotic...
Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving muscles. The underlying and the mechanism disease progression are unknown. Here, we identified somatic gain-of-function mutation PIK3CA in five pediatric patients with HFMH. To understand physiopathology muscle hypertrophy this context, created mouse model carrying specifically skeletal led to striated cell hypertrophy, mitochondria dysfunction, hypoglycemia low circulating insulin levels. Alpelisib...
Macroautophagy (hereafter referred to as autophagy) is an evolutionarily conserved catabolic process whose loss-of-function has been linked a growing list of pathologies. Knockout mouse models key autophagy genes have instrumental in the demonstration critical functions autophagy, but they display early lethality, neurotoxicity and unwanted autophagy-independent phenotypes, limiting their applications for vivo studies. To avoid problems encountered with autophagy-null transgenic mice, we...
Abstract Dysimmune and Inflammatory Myopathies (DIMs) are acquired idiopathic myopathy associated with immune response dysregulation. Inclusion Body Myositis (IBM), the most common DIMs, is characterized by endomysial infiltrates of cytotoxic T lymphocytes CD8, muscle type II-interferon (IFNγ) signature, lack to immunomodulatory therapies. We showed that IBM was pathologically presence chronic degenerative myopathic features including myofiber atrophy, fibrosis, adipose involution, altered...
Abstract Background Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disorder, culminating in complete loss of ambulation, hypertrophic cardiomyopathy and fatal cardiorespiratory failure. Necroptosis the form necrosis that dependent upon receptor‐interacting protein kinase (RIPK) 3; it involved several inflammatory neurodegenerative conditions. We previously identified RIPK3 as key player acute myonecrosis affecting hindlimb muscles mdx dystrophic mouse model. Whether...
The necrosis of muscle fibres (myonecrosis) plays a central role in the pathogenesis several conditions, including muscular dystrophies. Therapeutic options addressing causes dystrophy are expected to alleviate degeneration. Therefore, method assay and quantify extent cell death biopsies is needed. Conventional methods observe myofiber degeneration situ either poorly quantitative or rely on injection vital dyes. In this article, an immunofluorescence protocol described that stains necrotic...
Abstract Objectives The aim of this study was to determine the association between various histological patterns and prognosis in patients with SSc histologically proven muscle involvement. Methods A multicentre retrospective conducted a cohort scleroderma who had undergone biopsy. biopsies were reviewed coordinated manner classify based on findings. Three different observed: fibrosing myopathy (FMy), inflammatory (IMy), immune-mediated necrotizing (IMNMy). Rates survival, relapse, cardiac...
Abstract Background Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disorder, culminating in complete loss of ambulation, hypertrophic cardiomyopathy and fatal cardiorespiratory failure. Necroptosis the form necrosis that dependent upon receptor-interacting protein kinase (RIPK) 3; it involved several inflammatory neurodegenerative conditions. We previously identified RIPK3 as key player acute myonecrosis affecting hindlimb muscles dystrophic mouse model, mdx. Whether...