المؤلفون: Norma B. Romero, Gillian Butler-Browne, Herbert Budka, Julia Wanschitz, Bruno Eymard, Michael B. Fischer, Odile Dubourg, Romana Höftberger, Olivier Benveniste, E. Lacène, Thomas Voit, Serge Herson

المساهمون: University of Zurich, Wanschitz, Julia V

المصدر: Neuromuscular Disorders
Neuromuscular Disorders; Vol 23

مصطلحات موضوعية: Male, Cellular differentiation, MyoD, Polymyositis, Muscular Dystrophies, 0302 clinical medicine, Satellite cells, Myocyte, Genetics(clinical), Genetics (clinical), Aged, 80 and over, Sporadic inclusion body myositis, 0303 health sciences, Myogenesis, PAX7 Transcription Factor, Cell Differentiation, Middle Aged, Cell biology, 2728 Neurology (clinical), Myogenic Regulatory Factors, Neurology, Female, Myogenin, Adult, musculoskeletal diseases, 2716 Genetics (clinical), Adolescent, education, 10208 Institute of Neuropathology, Clinical Neurology, 610 Medicine & health, Biology, Article, Dermatomyositis, Myositis, Inclusion Body, Young Adult, 03 medical and health sciences, MyoD Protein, parasitic diseases, medicine, Humans, Regeneration, Endothelium, 2735 Pediatrics, Perinatology and Child Health, Pediatrics, Perinatology, and Child Health, Muscle, Skeletal, Aged, Cell Proliferation, 030304 developmental biology, medicine.disease, Microvascularization, Case-Control Studies, 2808 Neurology, Microvessels, Pediatrics, Perinatology and Child Health, Myogenic regulatory factors, Immunology, 570 Life sciences, biology, Neurology (clinical), 030217 neurology & neurosurgery

الوصف: Muscle repair relies on coordinated activation and differentiation of satellite cells, a process that is unable to counterbalance progressive degeneration in sporadic inclusion body myositis (s-IBM). To explore features of myo regeneration, the expression of myogenic regulatory factors Pax7, MyoD and Myogenin and markers of regenerating fibers was analyzed by immunohistochemistry in s-IBM muscle compared with polymyositis, dermatomyositis, muscular dystrophy and age-matched controls. In addition, the capillary density and number of interstitial CD34+ hematopoietic progenitor cells was determined by double-immunoflourescence staining. Satellite cells and regenerating fibers were significantly increased in s-IBM similar to other inflammatory myopathies and correlated with the intensity of inflammation (R>0.428). Expression of MyoD, visualizing activated satellite cells and proliferating myoblasts, was lower in s-IBM compared to polymyosits. In contrast, Myogenin a marker of myogenic cell differentiation was strongly up-regulated in s-IBM muscle. The microvascular architecture in s-IBM was distorted, although the capillary density was normal. Notably, CD34+ hematopoietic cells were significantly increased in the interstitial compartment. Our findings indicate profound myo-endothelial remodeling of s-IBM muscle concomitant to inflammation. An altered expression of myogenic regulatory factors involved in satellite cell activation and differentiation, however, might reflect perturbations of muscle repair in s-IBM.

وصف الملف: Wanschitz_NeurMuscDis_2012.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362cc3781842469b7e421487afc539eaTest

المؤلفون: Jana Zschüntzsch, J. De Bleecker, Julia Schmidt, B. De Paepe

المصدر: Neuromuscular Disorders. 27:S157

مصطلحات موضوعية: 0303 health sciences, Inflammation, Biology, Accumulator (cryptography), 03 medical and health sciences, 0302 clinical medicine, Neurology, Biochemistry, Osmolyte, Pediatrics, Perinatology and Child Health, medicine, Myocyte, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ec4eb3628df30dd01e52da83e979402eTest
https://doi.org/10.1016/j.nmd.2017.06.233Test

المؤلفون: O. De Wever, B. De Paepe, Eline Nys, Sandrine Herbelet, Jens Schmidt, Laurens Weynants, Jana Zschüntzsch, Karsten Schmidt, J. De Bleecker

المصدر: Neuromuscular Disorders. 25:S252-S253

مصطلحات موضوعية: 0303 health sciences, Biology, Cell biology, Fight-or-flight response, 03 medical and health sciences, 0302 clinical medicine, Neurology, Expression (architecture), NFAT5, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Myocyte, Neurology (clinical), Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4ab797b29e72e4c1d3adc3b774e3d4aeTest
https://doi.org/10.1016/j.nmd.2015.06.245Test

المؤلفون: Ans T. van der Ploeg, Linda E.M. van den Berg, Pieter A. van Doorn, Robert M. Verdijk, Juna M. de Vries, Arnold J. J. Reuser

المصدر: Neuromuscular Disorders; Vol 21

مصطلحات موضوعية: myalgia, Adult, Pathology, medicine.medical_specialty, Biopsy, Clinical Neurology, Lysosomal storage disease, Glycogenosis type II, Disease, Gene mutation, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Myocyte, Muscle pathology, Humans, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Genetics (clinical), Fatigue, 030304 developmental biology, 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, Glycogen Storage Disease Type II, Enzyme replacement therapy, medicine.disease, Muscle fiber type, 3. Good health, Muscle Fibers, Slow-Twitch, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

الوصف: We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a79be9f4b89f7b086cf585a93d36d03Test

المؤلفون: Per Harald Jonson, Mark Screen, Peter Hackman, Sanna Huovinen, Bjarne Udd, Olayinka Raheem

المصدر: Neuromuscular Disorders. 22:818

مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, XBP1, Biology, Cell biology, Gene expression profiling, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, RNA splicing, medicine, Unfolded protein response, biology.protein, Myocyte, Titin, Neurology (clinical), medicine.symptom, Myopathy, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

الوصف: Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle cells in TMD is largely unknown. To identify these components we used gene expression profiling from muscle biopsies samples of TMD patients, healthy controls and from phenotypically overlapping Welander distal myopathy (WDM) patients. The profiling results were confirmed through RT-PCR and protein level analysis and we identified an activation of the unfolded protein response (UPR). UPR was then confirmed through elevation of marker genes HSPA5 (BIP) and XBP1 and the presence of ER-stress specific XBP1 splicing events. However, UPR activation appears to be insufficient, leading to build-up of ubiquitinated proteins which in turn cause activation of the autophagic system. Massive accumulation of LC3b positive autophagosomes within the rimmed vacuolated regions of degenerated muscle fibers suggests that this apparently compensatory mechanism is not capable of restoring equilibrium since these fibers degenerate further and disappear in the end stage of the pathology cascade.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fdeb066dfb6de7dac43dc8f8c524e172Test
https://doi.org/10.1016/j.nmd.2012.06.056Test

المصدر: Neuromuscular Disorders.

مصطلحات موضوعية: 0303 health sciences, education.field_of_study, medicine.medical_specialty, Neuromuscular disease, Population, Emerin, Cardiomyopathy, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Myocyte, Neurology (clinical), Emery–Dreifuss muscular dystrophy, Muscular dystrophy, education, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, Muscle contracture

الوصف: Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disease characterized by early contractures, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy. In X-linked EDMD (EDMD1), female carriers are usually unaffected. Here we present a clinical description and in vitro characterization of a mildly affected EDMD1 female carrying the heterozygous EMD mutation c.174_175delTT; p.Y59* that yields loss of protein. Muscle tissue sections and cultured patient myoblasts exhibited a mixed population of emerin-positive and -negative cells; thus uneven X-inactivation was excluded as causative. Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a novel phenotype in EDMD. Both emerin-positive and emerin-negative myoblasts exhibited spontaneous differentiation in tissue culture, though emerin-negative myoblasts were more proliferative than emerin-positive cells. The preferential proliferation of emerin-negative myoblasts together with the high rate of spontaneous differentiation in both populations suggests that loss of functional satellite cells might be one underlying mechanism for disease pathology. This could also account for the slowly developing muscle phenotype.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c879fb6a33807b3da2d3dc506cf57b6Test